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Neuropathology > Clinical Movement disorders I - Hyperkinetic disorders > Flashcards

Clinical Movement disorders I - Hyperkinetic disorders Flashcards

1
Q

Diagnosis of a movement disorder

A

Type of movement (phenomenology):

(1) Usually not purely a deficit
(2) Ballismus, chorea/athetosis, dystonia, bradykinesia, tremor, tic, myoclonus, ataxia
(3) Divided into hyperkinetic and hypokinetic categories

Association with other neurologic signs or symptoms

Investigation of possible etiologies
(1) Genetic, structural, toxic, idiopathic, etc.

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2
Q

Types of abnormal movements

list

A

Types of movements: ballismus, chorea/athetosis, dystonia, bradykinesia/hypokinesia, tremor, tics, myoclonus, ataxia

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3
Q

Ballismus or ballism

def

A

(1) Sudden flinging movements of an entire limb

(2) Usually due to a lesion in the subthalamic nucleus (3) Usually unilateral

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4
Q

Chorea/athetosis

def

A

Nearly continuous movements which may affect one or more limbs and possibly the trunk

Chorea (which means “dance”) typically causes brisk, distal movements
Athetosis (which means “not fixed” or “not steady”) typically causes proximal, writhing movements
Chorea/athetosis is a spectrum, and patients often have both types of movement

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5
Q

Chorea/athetosis disorders

HD

chars

A

(i) Autosomal dominant
(ii) Expanded trinucleotide repeat (CAG) > 30
(iii) Chromosome 4
(iv) Caudate nucleus atrophy

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6
Q

Dysimmune chorea

causes

A

Sydenham’s chorea: post-infectious
Chorea gravidarum
SLE

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7
Q

Toxic chorea

causes

A

CO poisoning

Over-medicated parkinson’s

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8
Q

Dystonia

def

A

Dystonia is a continuous or nearly continuous involuntary contraction of a group of muscles causing an abnormal posture. It may be

a. Focal, affecting a limb or part of a limb
b. Segmental, affecting multiple muscles innervated by the same segments of the spinal cord
c. Generalized

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9
Q

Dystonias

MOI/gene

Early-onset generalized torsion dystonia

A

MOI: AD
Gene: Torsin A

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10
Q

Dystonias

MOI/gene

DOPA-responsive dystonia

A

MOI: AD
Gene: GTP- cyclohydrolase

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11
Q

Dystonias

MOI/gene

Sagawa Syndrome

A

MOI: AR
Gene: Tyrosine Hydroxylase

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12
Q

Dystonias

MOI/gene

Paroxysmal nonkinesigenic dyskinesia

A

MOI: AR
Gene: Myofibrillogenesis Regulator-1 (MR1)

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13
Q

Causes of dystonia

Gen list

A

Genetic
Idiopathic
Toxic
Structural injury involving basal ganglia

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14
Q

Causes of dystonia

Genetic

chars

A

(i) Generalized, usually pediatric onset

(ii) Genetic focal dystonias, including some cervical dystonia

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15
Q

Causes of dystonia

Idiopathic

chars

A

(i) Cervical dystonia (torticollis, wry-neck) is most common
(ii) Other focal dystonias can occur idiopathically: limb dystonia, blepharospasm (dystonic eye closure), spasmodic dysphonia
(iii) Task-specific dystonia, such as Organic Writer’s Cramp

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16
Q

Causes of dystonia

Toxic dystonia

chars

A

(i) Acute dystonic reaction to neuroleptics
(ii) Tardive dyskinesia
(iii) Tetanus fits the definition of dystonia, but has a different mechanism via clostridial toxin

17
Q

Causes of dystonia

Structural injury

chars

A

Usually involving basal ganglia

(i) Trauma
(ii) Stroke
(iii) Tumor

18
Q

How to characterize a tremor

A

Rhythm

(i) must be regular
(ii) frequency: fast or slow

Morphology

(i) flexion/extension
(ii) pill rolling

Circumstance

(i) postural
(ii) resting
(iii) action

19
Q

Essential tremor

chars

A

Postural tremor, 8-12 Hz

May be asymmetric but has bilateral onset

Incidence and severity increase with age

Often autosomal dominant

20
Q

Essential tremor

tx

A

Alcohol consumption may transiently suppress the tremor

Drugs for essential tremor include primidone, beta-blockers, topiramate alprazolam, and gabapentin (Class A or B evidence)

Thalamic DBS can be used for severe and refractory tremor

21
Q

Wilsons disease

Clinical presentation

A

Progressive hepatolenticular (liver and basal ganglia) degeneration

(i) Behavioural abnormalities are common
(ii) Causes proximal tremor or any other movement disorder
(iii) Cirrhosis
(iv) Kayser-Fleischer corneal ring (brown-green at the limbus of the cornea)

22
Q

Wilson’s disease

Genetics

A

(i) The gene for Wilson’s disease is located at 13q14.3-q21.1
(ii) It is autosomal recessive, with a prevalence of ~30 per million (~1:100 are carriers)
(iii) It encodes ATP7B, a copper transporting P-type ATPase expressed predominantly in the liver
(iv) Over 200 disease specific mutations of ATP7B have been reported
(v) ATP7B is approximately 80 kb and contains 21 exons that encode an approximately 7.5 kb transcript

23
Q

Wilson’s disease

Abnormal hepatobiliary copper excretion

A

There are multiple forms of ceruloplasmin, between 115 and 200 kD.

Ceruloplasmin is not always reduced, nor does the reduction in ceruloplasmin correlate with disease severity

24
Q

All patients aged 6-40 years with a new movement disorder should be screened with which tests for wilson’s disease

A

(i) Serum ceruloplasmin (low in 73%)
(ii) 24-hr urinary copper (high in 88%)
(iii) Slit-lamp exam for Kayser-Fleischer corneal ring (present in 55%, but present in 90% if there is neurologic disease)

25
Q

Tic Movements

Gen chars

A

a. Stereotypic
b. Repetitive
c. Irregular
d. Usually can be volitionally suppressed temporarily
e. Can be more complex than myoclonus
f. May include vocalizations

26
Q

Simple motor tic

def

A

Simple motor tic= A single sterotypic movement

27
Q

Gilles de la Tourette syndrome

chars

A

An inherited disorder with multiple vocal and motor tics beginning before age 21
Genetically linked to obsessive-compulsive disorder (OCD)
Often co-occurs with attention deficit hyperactivity disorder (ADHD) or antisocial conduct disorder
Common motor tics: blinking, facial twitching, shoulder shrugging
Vocal tics: grunting, barking, humming, repetitve phrases. Coprolalia (involuntary cursing) occurs in 6% of Touretters

28
Q

Myoclonus

Movements are…

A

Movements are:

Sudden, abrupt
Focal, localized
Usually recurrent but not regular
May be generalized or segmental

29
Q

Myoclonus

Originates from/frequently seen in…

A

May originate from cortex, brainstem reticular formation or spinal segment

Frequently seen in toxic or metabolic encephalopathy

30
Q

Asterixis

Gen chars

A

Intermittent lapses in postural tone

Not truly rhythmic

Usually occurs in toxic-metabolic encephalopathies

31
Q

Ataxia

Manifested by…

A

Ataxia is manifested by dysmetria and movement decomposition

a. Dyscoordination
b. Dysmetria- disturbance of placement, under- and over-shoot
c. Dysdiadochokinesis- decomposition of repetitive movements

32
Q

Ataxia

Deficit of…/may be due to…

A

Sometimes described as a “tremor” but is not rhythmic (although cerebellar disease can cause both ataxia and tremor together)

Ataxia is a deficit of motor function

May be due to sensory or cerebellar lesion

33
Q

Fibrillations & fasciculations

chars

A

Involve fascicles and motor units, not whole muscles

Movement disorders involve whole muscles, muscle groups or are generalized.

34
Q

Hyperkinetic disorders

Lab studies that can be done for various disorders

A

1) MRI
(2) Wilson’s: ceruloplasmin, 24 hr urinary copper, Kayser-Fleischer rings
(3) Collagen-vascular disease: ESR, ANA, RF
(4) Post-infectious chorea: ASO
(5) Storage diseases: amino acids, RBC morphology, uric acid
(6) Genetic tests for Huntington’s & spinocerebellar ataxias (SCAs)

Neuropathology (29 decks)

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