Adult Movement Disorders Flashcards

1
Q

A 40-year-old man has a family history of hereditary neurodegenerative disease and early death. His father died of a rapidly progressive dementia at the age of 50 and he has previously been told that he has the defective gene. He presents with personality change and non-purposeful, slow, rhythmic movements of his hands and face. A magnetic resonance imaging (MRI) indicates atrophy in the head of the caudate nucleus. Which one of the following neurotransmitter deficiencies is most likely to be responsible?
a. Dopamine in the substantia nigra
b. Substance P in the subthalamic nucleus
c. Acetylcholine and gamma-aminobutyric acid in the striatum
d. Serotonin in the globus pallidus
e. Glutamate in the cortex

A

c. Acetylcholine and gamma-aminobutyric acid in the striatum

Huntington’s disease is characterized by loss of striatal neurons resulting in reduced levels of choline acetyltransferase, glutamic acid decarboxylase, and GABA in the striatum resulting in a relative excess of dopamine causing a hyperkinetic movement disorder with writhing and jerking movements of the limbs (chorea). Dopamine antagonists, such as haloperidol, may be used to suppress chorea, but also carry the risk of provoking tardive dyskinesia. Dopaminergic drugs, such as L-dopa, bromocriptine, and lisuride, may unmask chorea but should not be used diagnostically as it may not abate.

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2
Q

A 43-year-old man has a father who died from Huntington’s disease. The son was tested and found to have the gene for Huntington’s disease. Which one of the following is true regarding the offspring of those with Huntington’s disease?
a. All children are at risk only if the affected parent is male
b. 1 in 10 are at risk only if the affected parent is female
c. 1 in 8 are at risk for the disease
d. 1 in 4 are at risk for the disease
e. 1 in 2 are at risk for the disease

A

e. 1 in 2 are at risk for the disease

Huntington’s disease is transmitted in an autosomal dominant fashion. The age at which the patient becomes symptomatic is variable and has no effect on the probability of transmitting the disease. The defect underlying this degenerative disease is an abnormal expansion of a triplicate repeat (CAG) sequence in the HTT gene on chromosome 4 (normally coding for the protein huntingtin). Normal individuals have between 6 and 34 copies of this CAG section; patients with Huntington’s disease may have from 36 to more than 100 repeats. People with the adult-onset form of Huntington’s disease typically have more than 36 CAG repeats in the HTT gene (although those with 36-39 still may not develop signs/ symptoms) and those with the juvenile form of the disorder tend to have more than 60 CAG repeats. Individuals who have 27-35 CAG repeats in the HTT gene do not develop Huntington’s disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington’s disease (36 repeats or more). Once expanded beyond 40 copies, the repeats are unstable and may further increase as they are passed on from one generation to the next. An increased number of repeats in successive generations can lead to earlier disease onset, a phenomenon termed anticipation.

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3
Q

Damage to the subthalamic nucleus is associated with which one of the following
a. Myoclonus
b. Dystonic tremor
c. Hemiballism
d. Levodopa-induced dyskinesia
e. Tardive dyskinesia

A

c. Hemiballism

A lesion of the subthalamic nucleus results in hemiballism, a form of dyskinesia in which the patient displays severe involuntary movements. It is believed to occur as a result of an imbalance in the output signals of the basal ganglia, with overactivity of the direct pathway relative to the indirect pathway. This is in contrast to Parkinson’s disease, where overactivity of the indirect pathway relative to the direct pathway results in bradykinesia.

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4
Q

Tardive dyskinesia is most likely the result of receptor changes causing hypersensitivity to which one of the following neurotransmitters?
a. Serotonin (5-HT)
b. Acetylcholine
c. Enkephalin
d. Dopamine
e. GABA

A

d. Dopamine

Tardive dyskinesia results from treatment with dopamine receptor blocking agents. Tardive syndromes are less frequently caused by atypical than by typical neuroleptics. The most common pat- tern of tardive dyskinesia is stereotyped and repetitive movement of the face (e.g., tonguethrusting and involuntary chewing movements is often accompanied by a feeling of restlessness). This akathisia may be localized and reported as a “burning” sensation, often of the genitals or mouth.

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5
Q

Which one of the following statements regarding dystonia is most accurate?
a. Isolated foot dystonia is very rare and may suggest an underlying Parkinsonian disorder or brain structural abnormality
b. Torticollis is the least common dystonia
c. Segawa’s disease is a primary dystonia responsive to antidopaminergic drugs
d. Trihexyphenidyl is the primary treatment for drug-induced dystonia
e. Blepharospasm is involuntary opening of eyelids resulting in paradoxical blinking

A

a. Isolated foot dystonia is very rare and may suggest an underlying Parkinsonian disorder or brain structural abnormality

Focal dystonias produce abnormal sustained muscle contractions in a single region of the body:
* Neck (torticollis): most commonly affected site with a tendency for the head to turn to one side.
* Eyelids (blepharospasm): involuntary closure of the eyelids that leads to excessive eye blinking, sometimes with persistent eye closure and functional blindness.
* Mouth (oromandibular dystonia): involun- tary contraction of muscles of the mouth, tongue, or face. * Hand (writer’s cramp).
Isolated foot dystonia is very rare and may suggest an underlying Parkinsonian disorder or brain structural abnormality. Generalized dystonia affects multiple areas of the body and can lead to marked joint deformities. Primary dystonia can be sporadic or heritable (e.g., DYT1 dystonia, Segawa’s disease). Secondary dystonia results from basal ganglia insults (stroke, demyelination, hypoxia, trauma), Huntington’s disease, Wilson’s disease, Parkinson’s syndromes, and lysosomal storage diseases. Acute or chronic (tardive) dyskinesias can occur with dopaminergic antagonists (e.g., antipsychotics, antiemetics). In addition to removing any offending drug, trihexyphenidyl is an anticholinergic drug which is used to manage chorea, dystonia and dyskinesias (by correcting the imbalance between dopamine and acetylcholine in the basal ganglia).

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6
Q

A 65-year-old man presents with difficulty getting out of chairs and problems walking over the last year with multiple falls. On examination, his face appeared mask-like with reduced blinking and slight drooling, and he had a pill-rolling tremor at rest bilaterally, and on passive movement demonstrated cogwheel rigidity. His handwriting became smaller towards the end of a sentence. There was no weakness, sensory problems, or abnormalities in his reflexes. There are no autonomic symptoms. He had a stooped posture and walked with a slow shuffling gait, with a noticeably reduced arm swing. Which one of the following statements regarding this condition is most accurate?
a. It may present with a 3 Hz rest pill rolling tremor
b. The major neuronal loss is in the substantia nigra pars reticularis
c. It is associated with a fluent aphasia
d. Loss of smell is a non-motor symptom of this disease
e. Dyskinesias are common in non- medicated patients

A

d. Loss of smell is a non-motor symptom of this disease

Idiopathic Parkinson’s disease is a neurodegenerative condition caused by progressive loss of dopaminergic cells in the substantia nigra pars compacta projecting to the striatum. This produces a hypokinetic movement disorder characterized by bradykinesia, rigidity and resting tremor. More specific symptoms include: a slow shuffling gait with a tendency to move progressively faster (festinating gait); micrographia; mask-like facial expression with reduced eye blinking; and difficulty getting out of a chair; quiet monotonous voice (hypophonia); muscle rigidity (lead-pipe rigidity); pill-rolling rest tremor 4-8 Hz, which combines with rigidity to produce “cogwheeling” on passive flexion by the examiner. Non-motor symptoms may also have a major impact on quality of life: drooling (reduced swallowing), dementia, REM sleep disorders, loss of smell, constipation, mood disorder (especially depression), orthostatic hypotension, bladder and erectile dysfunction. Dopamine cannot cross the blood-brain barrier, hence medical therapy must increase striatal dopamine by other means (e.g., prevent catecholamine breakdown [MAOI-B], provide the immediate precursor to dopamine [levodopa], or other dopaminergic receptor agonists).

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7
Q

Which one of the followings statements regarding Parkinson’s plus syndromes is LEAST accurate?
a. MSA-P (Striatonigral degeneration) is characterized by Parkinsonism with autonomic failure
b. Dementia with Lewy bodies is often associated with detailed visual hallucinations
c. Tremor is rare in progressive supranuclear palsy
d. Corticobasal degeneration may include cortical sensory loss and apraxia
e. MSA-C (olivopontocerebellar atrophy) is characterized by Parkinsonism with progressive ataxia

A

e. MSA-C (olivopontocerebellar atrophy) is characterized by Parkinsonism with progressive ataxia

Many other disorders present with Parkinsonian features early in their course, and the more characteristic features of some of these “Parkinson’s plus” syndromes (e.g., gaze paralysis in progressive supranuclear palsy or autonomic dysfunction in multiple system atrophy) may not become apparent until several years after symptom onset. An incorrect diagnosis of early Parkinson’s disease is probably made between 10% and 20% of the time, even among Parkinson’s disease specialists. An accurate early diagnosis of Parkinson’s disease is becoming increasingly important as the long-term effects of early treatment on natural history are better understood. Secondary Parkinsonism may be idiopathic, drug-induced, toxin-induced, due to cerebrovascular disease or structural lesions, or post-traumatic. Clinically similar to Parkinson’s disease, symptomatic Parkinsonism may be identified by history (e.g., medication history or exposure to toxins) or by symptoms and signs consistent with an underlying disorder. Clues suggesting secondary Parkinsonism include acute/subacute onset, symmetric symptoms, rapid progression or static course, poor response to dopaminergic drugs, history of exposure to causative drugs/toxins/ CNS infection/cerebrovascular disease, and signs of underlying metabolic or structural brain disease.

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8
Q

A 67-year-old man had idiopathic tremulous Parkinson’s disease diagnosed 15 years ago, and has had a 10-year history of progressive worsening in wearing-off phenomenon. Despite increasing the dose and frequency of levodopa this had still deteriorated, and higher doses induced peak-dose dyskinesias. High-frequency stimulation of which one of the following brain structures is most likely to improve his symptoms?
a. Unilateral STN
b. Bilateral STN
c. Unilateral Vim
d. Bilateral Vim
e. Bilateral GPi

A

b. Bilateral STN

A number of prospective and randomized trials comparing STN and GPi DBS have contributed to a better definition of the differences between these two targets. STN stimulation is superior for rigidity, bradykinesia, cost (medication reduction and less frequent battery change) and is more popular for tremor due to proximity to zona incerta. GPi stimulation is superior for dyskinesia, dystonia (including levodopa-unresponsive; STN only works for levodopa-responsive), cognition, mood and apathy, axial motor symptoms, does not adversely affect speech/swallowing, can be implanted unilaterally, and requires less frequent programming (initially). The motor benefits can be similar with each target, but STN offers greater benefit for off-symptoms, facilitates medication dose lowering and is most cost efficient, whereas dyskinesia suppression and longterm effects on postural stability and cognitive function favor GPi. STN stimulation may risk behavior and impulse control disorders, but medication reduction reduces these. FURTHER READING Fasano A, Lozano AM. Deep brain stimulation for movement disorders: 2015 and beyond. Curr Opin Neurol 2015;28:423-36.

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9
Q

A 25-year-old man has had motor tics since age 13. They seem to be getting worse, and now he also has involuntary obscene vocalizations. Which one of the following stimulation targets would you use in this patient?
a. Centromedian nucleus parafascicular complex of thalamus
b. Vim thalamus
c. Posterior hypothalamus
d. Subthalamic nucleus
e. Hippocampus

A

a. Centromedian nucleus parafascicular complex of thalamus

Tourette’s syndrome is defined by the onset of motor and vocal tics before 18 years of age that cannot be ascribed to another medical condition. Tics must occur multiple times over at least 1 year and must evolve over time. The first tics are usually observed around the age of 5 or 6, and tic severity peaks 4-5 years later, and is lowest in patients’ early 20s, coincident with frontal lobe maturation. Tics are worsened by heightened emotional states, stress, and fatigue. The tics of Tourette’s syndrome are commonly accompanied by attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD). In Tourette’s syndrome, obsessions center on concerns with symmetry, fear of violent thoughts, and a need to perform activities in a particular manner (rather than fears of contamination and checking seen in primary OCD). These obsessions may lead to self-injurious behavior. There is evidence that it shows a sex-linked autosomal dominant mode of inheritance, and is due to dysfunction in the corticostriatalthalamocortical loop. The most commonly used targets for DBS have been the thalamic nuclei (centromedian nucleus-parafascicular complex and ventral oral nuclei) followed by either the limbic (anteromedial) or motor (posteroventral) regions of GPi. A double-blind, randomized crossover trial on GPi DBS has reported a significant improvement in tic severity, with an overall acceptable safety profile. FURTHER READING Fasano A, Lozano AM. Deep brain stimulation for movement disorders: 2015 and beyond. Curr Opin Neurol 2015;28:423-36.

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10
Q

A 22-year-old male is involved in a road traffic collision and sustains a significant traumatic brain injury. CT head shows traumatic subarachnoid hemorrhage and hemorrhagic contusions extending into the basal ganglia. After a long period of rehabilitation he is left with a residual left arm tremor. Which one of the following could be consid- ered to manage his tremor?
a. Motor cortex stimulation
b. VIM thalamic stimulation
c. STN stimulation
d. Red nucleus stimulation
e. Ventral striatal/ventral internal capsule
stimulation

A

b. VIM thalamic stimulation

DBS of the ventro-intermedius nucleus (Vim) of the thalamus is an effective treatment for essential tremor, tremor dominant PD and other types of tremor. In essential tremor, a loss of benefit is sometimes observed over time. In both shortand long-term studies, dysarthria and disequilibrium are the most frequent reported adverse effects, especially with bilateral stimulation. The very mild cerebellar ataxia displayed by ET patients may also be improved by the stimulation of the posterior subthalamic area (STA), beneath the inferior border of the Vim, where the dentato-thalamic tract runs—conversely strong stimulation worsens cerebellar side effects. FURTHER READING Fasano A, Lozano AM. Deep brain stimulation for movement disorders: 2015 and beyond. Curr Opin Neurol 2015;28:423-36.

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11
Q

Which one of the following targets is most commonly used for the treatment of dystonia?
a. GPi
b. Vim thalamus
c. Vo thalamus
d. STN
e. Nucleus accumbens

A

a. GPi

GPi DBS in isolated dystonias (either generalized or segmental) is supported by strong evidence of success, with improvement. Improvement is sustained up to 10 years after surgery, although some patients need the implantation of additional GPi electrodes. In addition, there are encouraging results in cervical dystonia, myoclonus-dystonia and tardive dystonia, in which the outcome of DBS is usually excellent, rapid and sustained. Case reports have also shown that cranial/cervical dystonias may not recur when DBS has stopped working (for a variety of reasons) suggesting chronic changes to circuits. FURTHER READING Fasano A, Lozano AM. Deep brain stimulation for movement disorders: 2015 and beyond. Curr Opin Neurol 2015;28:423-36.

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12
Q

Which one of the following statements regarding thalamotomy is LEAST accurate?
a. It is most appropriate for those with predominantly unilateral symptoms
b. Lesions placed to laterally may result in contralateral weakness
c. Bilateral thalamotomy is the treatment of choice in bilateral tremor dominant Parkinson’s disease when deep brain stimulation is not possible
d. Speech disturbance is a common problem
e. Lesions placed too posteriorly may cause numbness and paresthesias of the mouth

A

c. Bilateral thalamotomy is the treatment of choice in bilateral tremor dominant Parkinson’s disease when deep brain stimulation is not possible

The best candidates for thalamotomy are patients with tremor-predominant PD or those with incapacitating benign essential tremor. Less predictable outcomes are seen with tremor and hemiballismus/chorea due to damage of the cerebellar tracts from cerebrovascular accidents, trauma or multiple sclerosis, and primary and secondary dystonias. It is important to confirm the clinical diagnosis of idiopathic PD or benign essential tremor since Parkinson’s plus syndromes have a much poorer prognosis after thalamotomy. Evidence of cognitive decline, speech disorders, serious systemic disease, and advanced age are also considered contraindications to surgery. Specific complications of thalamotomy are due to inaccurate lesion placement or overly large lesions. Lesions placed too laterally may result in contralateral weakness due to injury of the posterior limb of the internal capsule (face and arm). Lesions placed too posterior may cause contralateral hemisensory deficits due to injury of the VC nucleus (e.g., numbness or paresthesias of the mouth or fingers). A significant proportion have transient dysarthria or dysphasia, and transient confusion and may persist permanently in some. Left thalamic lesions are associated with an increased risk for deficits in learning, verbal memory and dysarthria while right thalamic lesions are associated with impaired visuospatial memory and nonverbal performance abilities. Bilateral thalamotomies are associated with deficits in memory/cognition and speech problems (e.g., hypophonia, dysarthria, dysphasia, and abulia) in up to 60%, hence should not be undertaken routinely—where they must be done it should be staged and slight variation in the target coordinates between sides may reduce major side effects.

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13
Q

A 5-year-old child with Rett syndrome exhibits hand wringing

Movement disorder signs:
a. Akithisia
b. Asterixis
c. Ataxia
d. Athetosis
e. Ballism
f. Bradykinesia
g. Chorea
h. Clonus
i. Dyskinesia
j. Dystonia
k. Myoclonus
l. Rigidity
m. Stereotypy
n. Tic
o. Tremor

A

m. Stereotypy

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14
Q

45-year-old patient with hepatic encephalopathy exhibits sudden and involuntary relaxation of a dorsiflexed hand

Movement disorder signs:
a. Akithisia
b. Asterixis
c. Ataxia
d. Athetosis
e. Ballism
f. Bradykinesia
g. Chorea
h. Clonus
i. Dyskinesia
j. Dystonia
k. Myoclonus
l. Rigidity
m. Stereotypy
n. Tic
o. Tremor

A

b. Asterixis

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15
Q

A 35-year-old with personality change and jerky limb movements, which he often attempts to mask by incorporating them into seemingly purposeful actions

Movement disorder signs:
a. Akithisia
b. Asterixis
c. Ataxia
d. Athetosis
e. Ballism
f. Bradykinesia
g. Chorea
h. Clonus
i. Dyskinesia
j. Dystonia
k. Myoclonus
l. Rigidity
m. Stereotypy
n. Tic
o. Tremor

A

g. Chorea

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16
Q

A 67-year-old presents with a reduction in movement velocity

Movement disorder signs:
a. Akithisia
b. Asterixis
c. Ataxia
d. Athetosis
e. Ballism
f. Bradykinesia
g. Chorea
h. Clonus
i. Dyskinesia
j. Dystonia
k. Myoclonus
l. Rigidity
m. Stereotypy
n. Tic
o. Tremor

A

f. Bradykinesia

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17
Q

A 70-year-old presents with involuntary, high-amplitude arm flinging episodes 3 months after an ischemic stroke

Movement disorder signs:
a. Akithisia
b. Asterixis
c. Ataxia
d. Athetosis
e. Ballism
f. Bradykinesia
g. Chorea
h. Clonus
i. Dyskinesia
j. Dystonia
k. Myoclonus
l. Rigidity
m. Stereotypy
n. Tic
o. Tremor

A

e. Ballism

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18
Q

A 34-year-old schizophrenic started on an antipsychotic presents 3 months later with involuntary, non-suppressible lip smacking, pouting and tongue protrusion

Movement disorder signs:
a. Akithisia
b. Asterixis
c. Ataxia
d. Athetosis
e. Ballism
f. Bradykinesia
g. Chorea
h. Clonus
i. Dyskinesia
j. Dystonia
k. Myoclonus
l. Rigidity
m. Stereotypy
n. Tic
o. Tremor

A

i. Dyskinesia

19
Q

A 40-year-old literary agent has had worsening tremor of the hands. This has been present for 2 years, but has increasingly impaired her work ability because she is frequently required to take her clients to lunch, and she is embarrassed by her inability to eat and drink normally. A glass of wine with the meal typically helps somewhat. On examination, there is a mild head tremor, but no rest tremor of the hands. When she holds a pen by the tip at arm’s length, however, a coarse tremor is readily apparent. Examination is otherwise normal

Tremor:
a. Cerebellar tremor
b. Drug-induced tremor
c. Dystonic tremor
d. Essential tremor
e. Holme’s tremor
f. Neuropathic tremor
g. Palatal tremor
h. Parkinsonian tremor
i. Physiological tremor
j. Primary orthostatic tremor
k. Psychogenic tremor

A

d. Essential tremor

20
Q

A 64-year-old man has noticed dragging of the right leg and tremor and stiffness of the right hand. On examination, he has a tremor of the right hand, which disappears when he reaches to grab a pen. Movements are slower on the right than the left. He has cogwheel rigidity of the right arm

Tremor:
a. Cerebellar tremor
b. Drug-induced tremor
c. Dystonic tremor
d. Essential tremor
e. Holme’s tremor
f. Neuropathic tremor
g. Palatal tremor
h. Parkinsonian tremor
i. Physiological tremor
j. Primary orthostatic tremor
k. Psychogenic tremor

A

h. Parkinsonian tremor

21
Q

A 56-year-old presents 4 months after a thalamic stroke with a left arm 3 Hz action tremor with a “wing beating” appearance

Tremor:
a. Cerebellar tremor
b. Drug-induced tremor
c. Dystonic tremor
d. Essential tremor
**
f. Neuropathic tremor
g. Palatal tremor
h. Parkinsonian tremor
i. Physiological tremor
j. Primary orthostatic tremor
k. Psychogenic tremor

A

e. Holme’s tremor

22
Q

A 47-year-old patient presents with a jerky, low-frequency 2 Hz high-amplitude action tremor. He also had impairment in fingernose and heel shin testing

Tremor:
a. Cerebellar tremor
b. Drug-induced tremor
c. Dystonic tremor
d. Essential tremor
e. Holme’s tremor
f. Neuropathic tremor
g. Palatal tremor
h. Parkinsonian tremor
i. Physiological tremor
j. Primary orthostatic tremor
k. Psychogenic tremor

A

a. Cerebellar tremor

23
Q

A 12-year-old girl presents with acute rheumatic fever develops rhythmic, writhing movements in all four limbs

Chorea, athetosis, and ballism:
a. Ataxia telangiectasia
b. Benign hereditary chorea
c. Cerebrovascular disease
d. Chorea gravidarum
e. Huntington’s disease
f. Mitochondrial disease (Leigh’s disease)
g. Neuroacanthocytosis
h. Spinocerebellar ataxia
i. Sydenham’s chorea
j. Wilson’s disease

A

i. Sydenham’s chorea

A delayed complication of infection with group A β-hemolytic streptococci that usually develops 48 weeks after the infection, and the most common cause of acute childhood chorea in the world. The typical age at onset of Sydenham’s chorea is 8-9 years; it is rarely seen in children younger than 5 years. The chorea usually generalizes but some patients remain hemichoreic. Associated symptoms include tics, OCD, and ADHD. The disease is self-limited and spontaneously remits after 8-9 months in a large percentage of patients, but up to 50% may still have chorea 2 years after infection. Huntington’s disease typically presents with neuropsychiatric symptoms that predate choreiform movements.

24
Q

A 35-year-old patient with Kaiser-Fleischer rings and a low serum ceruloplasmin

Chorea, athetosis, and ballism:
a. Ataxia telangiectasia
b. Benign hereditary chorea
c. Cerebrovascular disease
d. Chorea gravidarum
e. Huntington’s disease
f. Mitochondrial disease (Leigh’s disease)
g. Neuroacanthocytosis
h. Spinocerebellar ataxia
i. Sydenham’s chorea
j. Wilson’s disease

A

j. Wilson’s disease

2—j, Wilson’s disease. An autosomal recessive disorder of copper metabolism that causes both liver and basal ganglia damage (hepatolenticular degeneration). usually appear between the ages of 11 and 25. Patients typically have a Parkinsonian akinetic-rigid syndrome, generalized dystonia, or a proximal postural/action tremor with ataxia and dysarthria. Although pure chorea may be seen in Wilson’s disease, it is an unusual manifestation of the syndrome. Psychiatric findings include pseudobulbar affect, impulsivity, and depression. Ceruloplasmin testing may be normal hence elevated 24h urinary copper levels is diagnostic. The classic Kaiser-Fleischer rings—flecks of copper visible in the cornea under slit-lamp examination—are almost universally present in patients with neurological symptoms.

25
Q

A 48-year-old patient with new onset atrial fibrillation who presents with hemichorea

Chorea, athetosis, and ballism:
a. Ataxia telangiectasia
b. Benign hereditary chorea
c. Cerebrovascular disease
d. Chorea gravidarum
e. Huntington’s disease
f. Mitochondrial disease (Leigh’s disease)
g. Neuroacanthocytosis
h. Spinocerebellar ataxia
i. Sydenham’s chorea
j. Wilson’s disease

A

c. Cerebrovascular disease

26
Q

A 19-year-old, left-handed woman has had several weeks of nausea, vomiting, and weight gain. She has been taking cyclizine with some reduction in vomiting. She has also noticed the recent onset of an involuntary relatively rapid and fluid, but not rhythmic, limb and trunk movements. Neurological examination is otherwise unremarkable. Which one of the following is the most likely diagnosis?

Chorea, athetosis, and ballism:
a. Ataxia telangiectasia
b. Benign hereditary chorea
c. Cerebrovascular disease
d. Chorea gravidarum
e. Huntington’s disease
f. Mitochondrial disease (Leigh’s disease)
g. Neuroacanthocytosis
h. Spinocerebellar ataxia
i. Sydenham’s chorea
j. Wilson’s disease

A

d. Chorea gravidarum

4—d, Chorea gravidarum. Chorea in pregnancy usually presents in the first or second trimester, and may be autoimmune in nature. The severity of the chorea tends to decrease as the pregnancy progresses. Approximately a third of patients see their symptoms resolve after delivery.

27
Q

A 26-year-old presents with orofacial dystonia and psychiatric disturbance. Peripheral blood smear shows acanthocytes

Chorea, athetosis, and ballism:
a. Ataxia telangiectasia
b. Benign hereditary chorea
c. Cerebrovascular disease
d. Chorea gravidarum
e. Huntington’s disease
f. Mitochondrial disease (Leigh’s disease)
g. Neuroacanthocytosis
h. Spinocerebellar ataxia
i. Sydenham’s chorea
j. Wilson’s disease

A

g. Neuroacanthocytosis

5—g, Neuroacanthosis. Includes choreoacanthocytosis and McLeod’ssyndrome,which both show acanthocytes on peripheral smear, peripheral neuropathy, psychiatric symptoms, and seizures. Choreoacanthocytosis is an autosomal recessive disease with an age at onset of 20-40 years and orofacial dystonia (e.g., lip and tongue biting, involuntarily push food out of their mouths with their tongue when eating), generalized chorea, dystonia, and tics can also occur. Abnormalities of saccadic eye movement may develop, similar to those in HD. Symptoms of McLeod’ssyndromeinclude limbweakness, chorea, cognitive decline, paranoia, and schizophrenia.

  • Genetic causes include Huntington’s disease, neuroacanthocytosis, and Wilson’s disease.
  • Infectious causes include rheumatic fever causing Sydenham’s chorea, chorea gravidarum during pregnancy, and spongiform encephalopathy (e.g., prion disease).
  • Drug-induced causes include oral contraceptives, tricyclic antidepressants, cimetidine, digoxin, verapamil, baclofen, steroids, and antiepileptics.
  • Strokes in the thalamic area of the brain can also cause choreiform movements.
28
Q

A 53-year-old woman is unable to stop blinking forcefully and has frequent grimacing movements of the face. At times, she protrudes her tongue against her will. She has never taken any medications

Dystonia:
a. DYT1 dystonia (Oppenheim’s dystonia)
b. DYT5 dystonia (Segawa’s disease)
c. DYT11 Myoclonic-dystonia
d. Huntington’s disease
e. Lesch-Nyhan syndrome
f. Meige syndrome
g. Multiple system atrophy
h. Neuroacanthocytosis
i. Spinocerebellar ataxia
j. Wilson’s disease

A

f. Meige syndrome

Meige syndrome is a form of focal dystonia characterized by blepharospasm, forceful jaw opening, lip retraction, neck contractions, and tongue thrusting. Sometimes these features are produced by phenothiazine or butyrophenone use, but they may also occur idiopathically, more often in women than men, with onset in the sixth decade. Botulinum toxin injection has been more effective in treatment than any oral medication.

29
Q

A 14-year-old boy from an Ashkenazi Jewish family presents with dystonia affecting his right leg which is not responsive to levodopa

Dystonia:
a. DYT1 dystonia (Oppenheim’s dystonia)
b. DYT5 dystonia (Segawa’s disease)
c. DYT11 Myoclonic-dystonia
d. Huntington’s disease
e. Lesch-Nyhan syndrome
f. Meige syndrome
g. Multiple system atrophy
h. Neuroacanthocytosis
i. Spinocerebellar ataxia
j. Wilson’s disease

A

a. DYT1 dystonia (Oppenheim’s dystonia)

2—a, DYT1 dystonia (Oppenheim’s dystonia). Primary dystonias are either sporadic mutations or heritable. The most common cause of earlyonset generalized dystonia is DYT1 dystonia (Oppenheim’s dystonia). It occurs relatively fre- quently in the Ashkenazi Jewish population, with a prevalence of 1 in 2000. DYT1 is inherited in an autosomal dominant fashion with a penetrance of 30-40%. The onset of symptoms is usually in late childhood/early adolescence, and they generally begin in one leg and later generalize. Dystonia plus syndromes are conditions in which Parkinsonism, tremor, or myoclonus develop in addition to dystonia. Dystonia plus can be divided into dystonia-Parkinsonism (DYT3 and DYT12), dopa-responsive dystonia (DYT5), paroxysmal dystonia (DYT8, DYT9, and DYT10), and myoclonus-dystonia (DYT11).

30
Q

A 9-year-old boy presents with left foot dystonia which shows a diurnal fluctuation and improves with levodopa treatment

Dystonia:
a. DYT1 dystonia (Oppenheim’s dystonia)
b. DYT5 dystonia (Segawa’s disease)
c. DYT11 Myoclonic-dystonia
d. Huntington’s disease
e. Lesch-Nyhan syndrome
f. Meige syndrome
g. Multiple system atrophy
h. Neuroacanthocytosis
i. Spinocerebellar ataxia
j. Wilson’s disease

A

b. DYT5 dystonia (Segawa’s disease)

3—b, DYT5 dystonia (Segawa’s disease). DYT5, or Segawa’s disease, is a childhood-onset levodopa-responsive dystonia. The initial symptom is generally foot dystonia, with a marked diurnal fluctuation that atten- uates with age. A postural tremor typically develops in adulthood, followed later by bradykinesia. Rest tremor is absent. Response to levodopa is marked and sustained. Both autosomal dominant and autosomal recessive subtypes have been identified. DYT11 has its onset in childhood or adolescence and is manifested as dystonia with alcohol-responsive proximal myoclonic jerks. The dystonia is usually mild and present in 50% of patients. Cervical dystonia and writer’s cramp are the most common. Many adults with myoclonus-dystonia syndrome report dramatic improvement in their symptoms with alcohol ingestion. Secondary dystonia is caused by basal ganglia insults (stroke, demyelination, hypoxia, trauma), Huntington’s disease, Wilson’s disease, Parkinson’s syndromes, drugs and lysosomal storage diseases.

31
Q

Overstimulation of the subthalamic nucleus

Adverse Effects of DBS:
a. Ataxia
b. Blepharospasm
c. Diplopia
d. Dysarthria
e. Infection
f. Intracranial hemorrhage
g. Microthalamotomy effect
h. Paresthesia
i. Photopsias
j. Tonic contraction

A

b. Blepharospasm

General risks of DBS surgery include infection, intracerebral hemorrhage, electrode malposition, and lead-related complications (fractures/infection). Stimulation related side effects related to direction of current spread and adjacent structures and are outlined below:

32
Q

Stimulation posterior to subthalamic nucleus

Adverse Effects of DBS:
a. Ataxia
b. Blepharospasm
c. Diplopia
d. Dysarthria
e. Infection
f. Intracranial hemorrhage
g. Microthalamotomy effect
h. Paresthesia
i. Photopsias
j. Tonic contraction

A

h. Paresthesia

General risks of DBS surgery include infection, intracerebral hemorrhage, electrode malposition, and lead-related complications (fractures/infection). Stimulation related side effects related to direction of current spread and adjacent structures and are outlined below:

33
Q

Stimulation posteromedial to globus pallidus interna

Adverse Effects of DBS:
a. Ataxia
b. Blepharospasm
c. Diplopia
d. Dysarthria
e. Infection
f. Intracranial hemorrhage
g. Microthalamotomy effect
h. Paresthesia
i. Photopsias
j. Tonic contraction

A

j. Tonic contraction

General risks of DBS surgery include infection, intracerebral hemorrhage, electrode malposition, and lead-related complications (fractures/infection). Stimulation related side effects related to direction of current spread and adjacent structures and are outlined below:

34
Q

Stimulation posterior to Vim thalamus

Adverse Effects of DBS:
a. Ataxia
b. Blepharospasm
c. Diplopia
d. Dysarthria
e. Infection
f. Intracranial hemorrhage
g. Microthalamotomy effect
h. Paresthesia
i. Photopsias
j. Tonic contraction

A

h. Paresthesia

General risks of DBS surgery include infection, intracerebral hemorrhage, electrode malposition, and lead-related complications (fractures/infection). Stimulation related side effects related to direction of current spread and adjacent structures and are outlined below:

35
Q

Stimulation anterior to Vim thalamus

Adverse Effects of DBS:
a. Ataxia
b. Blepharospasm
c. Diplopia
d. Dysarthria
e. Infection
f. Intracranial hemorrhage
g. Microthalamotomy effect
h. Paresthesia
i. Photopsias
j. Tonic contraction

A

a. Ataxia

It is generally accepted that symptomatic therapy should start when a patient becomes functionally impaired, although functional impairment is highly individualized depending on symptoms and patient lifestyle. The activities of daily living subscale of the UPDRS is useful to assess disability. Current opinion is divided about when to start therapy with levodopa-carbidopa. Delay may minimize the risks of motor complications and theoretical progression of disease by oxidant radical formation from the metabolism of levodopa. Most specialists, in fact, delay its introduction, giving less potent medications a trial first, especially in younger patients. Levodopacarbidopa is generally the first-choice medication for most elderly patients and is almost universally effective. Combination therapy begins with the addition of a COMT inhibitor to levodopa-carbidopa. Dopamine agonists and levodopa-carbidopa can be tried next. In some patients, it may be necessary to use all three agents. Parkinson’s related depression is the most common nonmotor symptom in Parkinson’s disease, affecting 40% of patients.

36
Q

First line therapy for elderly patients presenting with Parkinson’s disease

Medical therapy for Parkinson’s disease:
a. Amantidine
b. Apomorphine
c. Benztropine
d. Entacapone
e. Levodopa-carbidopa
f. Nortriptyline
g. Rivastigmine (or donepezil)
h. Ropinerole (or pramipexole)
i. Rotigotine
j. Selegiline

A

e. Levodopa-carbidopa

It is generally accepted that symptomatic therapy should start when a patient becomes functionally impaired, although functional impairment is highly individualized depending on symptoms and patient lifestyle. The activities of daily living subscale of the UPDRS is useful to assess disability. Current opinion is divided about when to start therapy with levodopa-carbidopa. Delay may minimize the risks of motor complications and theoretical progression of disease by oxidant radical formation from the metabolism of levodopa. Most specialists, in fact, delay its introduction, giving less potent medications a trial first, especially in younger patients. Levodopacarbidopa is generally the first-choice medication for most elderly patients and is almost universally effective. Combination therapy begins with the addition of a COMT inhibitor to levodopa-carbidopa. Dopamine agonists and levodopa-carbidopa can be tried next. In some patients, it may be necessary to use all three agents. Parkinson’s related depression is the most common nonmotor symptom in Parkinson’s disease, affecting 40% of patients.

37
Q

First line transdermal therapy for early onset Parkinson’s disease

Medical therapy for Parkinson’s disease:
a. Amantidine
b. Apomorphine
c. Benztropine
d. Entacapone
e. Levodopa-carbidopa
f. Nortriptyline
g. Rivastigmine (or donepezil)
h. Ropinerole (or pramipexole)
i. Rotigotine
j. Selegiline

A

i. Rotigotine

It is generally accepted that symptomatic therapy should start when a patient becomes functionally impaired, although functional impairment is highly individualized depending on symptoms and patient lifestyle. The activities of daily living subscale of the UPDRS is useful to assess disability. Current opinion is divided about when to start therapy with levodopa-carbidopa. Delay may minimize the risks of motor complications and theoretical progression of disease by oxidant radical formation from the metabolism of levodopa. Most specialists, in fact, delay its introduction, giving less potent medications a trial first, especially in younger patients. Levodopacarbidopa is generally the first-choice medication for most elderly patients and is almost universally effective. Combination therapy begins with the addition of a COMT inhibitor to levodopa-carbidopa. Dopamine agonists and levodopa-carbidopa can be tried next. In some patients, it may be necessary to use all three agents. Parkinson’s related depression is the most common nonmotor symptom in Parkinson’s disease, affecting 40% of patients.

38
Q

May have neuroprotective effect if given early in Parkinson’s disease

Medical therapy for Parkinson’s disease:
a. Amantidine
b. Apomorphine
c. Benztropine
d. Entacapone
e. Levodopa-carbidopa
f. Nortriptyline
g. Rivastigmine (or donepezil)
h. Ropinerole (or pramipexole)
i. Rotigotine
j. Selegiline

A

j. Selegiline

It is generally accepted that symptomatic therapy should start when a patient becomes functionally impaired, although functional impairment is highly individualized depending on symptoms and patient lifestyle. The activities of daily living subscale of the UPDRS is useful to assess disability. Current opinion is divided about when to start therapy with levodopa-carbidopa. Delay may minimize the risks of motor complications and theoretical progression of disease by oxidant radical formation from the metabolism of levodopa. Most specialists, in fact, delay its introduction, giving less potent medications a trial first, especially in younger patients. Levodopacarbidopa is generally the first-choice medication for most elderly patients and is almost universally effective. Combination therapy begins with the addition of a COMT inhibitor to levodopa-carbidopa. Dopamine agonists and levodopa-carbidopa can be tried next. In some patients, it may be necessary to use all three agents. Parkinson’s related depression is the most common nonmotor symptom in Parkinson’s disease, affecting 40% of patients.

39
Q

Extending the duration of action of levodopa-carbidopa

Medical therapy for Parkinson’s disease:
a. Amantidine
b. Apomorphine
c. Benztropine
d. Entacapone
e. Levodopa-carbidopa
f. Nortriptyline
g. Rivastigmine (or donepezil)
h. Ropinerole (or pramipexole)
i. Rotigotine
j. Selegiline

A

d. Entacapone

It is generally accepted that symptomatic therapy should start when a patient becomes functionally impaired, although functional impairment is highly individualized depending on symptoms and patient lifestyle. The activities of daily living subscale of the UPDRS is useful to assess disability. Current opinion is divided about when to start therapy with levodopa-carbidopa. Delay may minimize the risks of motor complications and theoretical progression of disease by oxidant radical formation from the metabolism of levodopa. Most specialists, in fact, delay its introduction, giving less potent medications a trial first, especially in younger patients. Levodopacarbidopa is generally the first-choice medication for most elderly patients and is almost universally effective. Combination therapy begins with the addition of a COMT inhibitor to levodopa-carbidopa. Dopamine agonists and levodopa-carbidopa can be tried next. In some patients, it may be necessary to use all three agents. Parkinson’s related depression is the most common nonmotor symptom in Parkinson’s disease, affecting 40% of patients.

40
Q

A 72-year-old man presented with idiopathic Parkinson’s disease has been on levodopa treatment for 5 years. His dose requirements have been steadily increasing, and after the most recent dose increase he complains of odd movements in his limbs about an hour after taking his tablets.

Motor complications in Parkinson’s
disease:
a. Acute akinesia
b. Akathisia
c. Camptocormia
d. Diphasic dyskinesia
e. Dystonia
f. Freezing of gait
g. No-on phenomenon
h. Peak-dose dyskinesia
i. Unpredictable off periods
j. Wearing off phenomenon

A

h. Peak-dose dyskinesia

Motor fluctuations are alterations between periods of being “on,” during which the patient experiences a positive response to medication, and being “off,” during which the patient experiences a re-emergence of the Parkinson’s symptoms. Levodopa-induced dyskinesia encompass a variety of involuntary movements, including chorea, dystonia, ballism, and myoclonus. Dyskinesia tend to appear when the patient is “on” and are usually choreiform. Dyskinesia in the “off” state is more commonly dystonic but can be any of those listed above. Early morning dystonic inversion of a foot (usually on the side of greater Parkinsonian involvement) occurs as a withdrawal reaction because of the long interval without medication overnight. Dyskinesia are sometimes mistaken for manifestations of progressive PD or confused with tremor by patients and their families, rather than recognized as reversible consequences of levodopa treatment. Dyskinesia occurs in 30-40% of patients treated with levodopa during the first 5 years of use and nearly 60% or more by 10 years. Management usually involves adjusting the levodopa doses and dosing schedule, adding an additional anti-Parkinsonian medication or manipulating dietary protein intake. FURTHER READING Motor fluctuations and dyskinesia in Parkinson disease. Uptodate. Topic 4893 Version 20.0.

41
Q

An 82-year-old with Parkinson’s disease is admitted to hospital as her symptoms are so severe she is frozen and cannot take her levodopa dose. Her temperature is 38.6 °C (101.8 °F), RR 30, O2 Sat 91% (air) and CXR demonstrates right lower lobe consolidation

Motor complications in Parkinson’s
disease:
a. Acute akinesia
b. Akathisia
c. Camptocormia
d. Diphasic dyskinesia
e. Dystonia
f. Freezing of gait
g. No-on phenomenon
h. Peak-dose dyskinesia
i. Unpredictable off periods
j. Wearing off phenomenon

A

a. Acute akinesia

Motor fluctuations are alterations between periods of being “on,” during which the patient experiences a positive response to medication, and being “off,” during which the patient experiences a re-emergence of the Parkinson’s symptoms. Levodopa-induced dyskinesia encompass a variety of involuntary movements, including chorea, dystonia, ballism, and myoclonus. Dyskinesia tend to appear when the patient is “on” and are usually choreiform. Dyskinesia in the “off” state is more commonly dystonic but can be any of those listed above. Early morning dystonic inversion of a foot (usually on the side of greater Parkinsonian involvement) occurs as a withdrawal reaction because of the long interval without medication overnight. Dyskinesia are sometimes mistaken for manifestations of progressive PD or confused with tremor by patients and their families, rather than recognized as reversible consequences of levodopa treatment. Dyskinesia occurs in 30-40% of patients treated with levodopa during the first 5 years of use and nearly 60% or more by 10 years. Management usually involves adjusting the levodopa doses and dosing schedule, adding an additional anti-Parkinsonian medication or manipulating dietary protein intake. FURTHER READING Motor fluctuations and dyskinesia in Parkinson disease. Uptodate. Topic 4893 Version 20.0.

42
Q

A 73-year-old patient diagnosed 4 years ago with Parkinson’s disease and is currently taking levodopa-carbidopa every 4 h. He presents with recurrence of bradykinesia and tremor 3 h after each dose of c. Benztropine d. Entacapone e. Levodopa-carbidopa f. Nortriptyline g. Rivastigmine (or donepezil) levodopa

Motor complications in Parkinson’s
disease:
a. Acute akinesia
b. Akathisia
c. Camptocormia
d. Diphasic dyskinesia
e. Dystonia
f. Freezing of gait
g. No-on phenomenon
h. Peak-dose dyskinesia
i. Unpredictable off periods
j. Wearing off phenomenon

A

j. Wearing off phenomenon

Motor fluctuations are alterations between periods of being “on,” during which the patient experiences a positive response to medication, and being “off,” during which the patient experiences a re-emergence of the Parkinson’s symptoms. Levodopa-induced dyskinesia encompass a variety of involuntary movements, including chorea, dystonia, ballism, and myoclonus. Dyskinesia tend to appear when the patient is “on” and are usually choreiform. Dyskinesia in the “off” state is more commonly dystonic but can be any of those listed above. Early morning dystonic inversion of a foot (usually on the side of greater Parkinsonian involvement) occurs as a withdrawal reaction because of the long interval without medication overnight. Dyskinesia are sometimes mistaken for manifestations of progressive PD or confused with tremor by patients and their families, rather than recognized as reversible consequences of levodopa treatment. Dyskinesia occurs in 30-40% of patients treated with levodopa during the first 5 years of use and nearly 60% or more by 10 years. Management usually involves adjusting the levodopa doses and dosing schedule, adding an additional anti-Parkinsonian medication or manipulating dietary protein intake. FURTHER READING Motor fluctuations and dyskinesia in Parkinson disease. Uptodate. Topic 4893 Version 20.0.

43
Q

A 67-year-oldpatientonlevodopa-carbidopa for Parkinson’s disease diagnosed 7 years ago presents with early morning painful flexion and inversion postures of the feet and toes

Motor complications in Parkinson’s
disease:
a. Acute akinesia
b. Akathisia
c. Camptocormia
d. Diphasic dyskinesia
e. Dystonia
f. Freezing of gait
g. No-on phenomenon
h. Peak-dose dyskinesia
i. Unpredictable off periods
j. Wearing off phenomenon

A

e. Dystonia

Motor fluctuations are alterations between periods of being “on,” during which the patient experiences a positive response to medication, and being “off,” during which the patient experiences a re-emergence of the Parkinson’s symptoms. Levodopa-induced dyskinesia encompass a variety of involuntary movements, including chorea, dystonia, ballism, and myoclonus. Dyskinesia tend to appear when the patient is “on” and are usually choreiform. Dyskinesia in the “off” state is more commonly dystonic but can be any of those listed above. Early morning dystonic inversion of a foot (usually on the side of greater Parkinsonian involvement) occurs as a withdrawal reaction because of the long interval without medication overnight. Dyskinesia are sometimes mistaken for manifestations of progressive PD or confused with tremor by patients and their families, rather than recognized as reversible consequences of levodopa treatment. Dyskinesia occurs in 30-40% of patients treated with levodopa during the first 5 years of use and nearly 60% or more by 10 years. Management usually involves adjusting the levodopa doses and dosing schedule, adding an additional anti-Parkinsonian medication or manipulating dietary protein intake. FURTHER READING Motor fluctuations and dyskinesia in Parkinson disease. Uptodate. Topic 4893 Version 20.0.