Degenerative Flashcards
1
Q
Final common pathway by which all neural impulses are transmitted to muscle
A
lower motor neurons
2
Q
refers to the isolated activity of individual muscle fibers
A
fibrillation
3
Q
refers to the visible twitch of a muscle fascicle
A
fasciculation
4
Q
A condition characterized as simultaneous or sequential spontaneous contractions of multiple motor units causing a rippling of muscle
A
myokymia
5
Q
Neurotransmitter released by Renshaw cells which are responsible for recurrent inhibition
A
Glycine
6
Q
Serves as the inhibitory neurotransmitter of interneurons in the posterior horn
A
Gamma-aminobutyric acid (GABA)
7
Q
The denervated muscle in LMN lesions undergoes extreme atrophy by how many percent in 3-4 months?
A
20-30%
8
Q
The only direct long-fiber connection between the cerebral cortex and the spinal cord
A
Corticospinal tract
9
Q
A series of rhythmic involuntary muscular contractions occurring at a frequency of 5-7 Hz in response to an abruptly applied and sustained stretch stimulus
A
Clonus
10
Q
Neurotransmitter of the corticospinal tract
A
Glutamic Acid
11
Q
An ill-defined clumsiness and maladroitness that is the result of an inability to fluidly connect or to isolate individual movements of the hand and arm
A
limb-kinetic apraxia
12
Q
most commonly observed of all apraxias in practice
A
oral-buccal-lingual apraxia
13
Q
commonest form of paralysis
A
hemiplegia
14
Q
most common cause of acute paraplegia
A
trauma
15
Q
helpful in distinguishing hysterical from organic hemiplegia manifested as the presence of downward pressure of the paralyzed leg
A
Hoover sign
16
Q
Activation of the direct pathway of the basal ganglia inhibits the ______ pallidum, which in turn, disinhibits the ____________ and _______________ nuclei of the thalamus.
A
medial, ventrolateral, ventroanterior
17
Q
The enhanced conduction through the indirect pathway leads to hypokinesia by _________ pallidothalamic inhibition.
A
increasing
18
Q
Toxin which leads to the discovery of the parkinsonian syndrome
A
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)
19
Q
The highest concentration of acetylcholine is located in which part of the basal ganglia?
A
striatum
20
Q
different concentration of the five types of dopamine receptors
A
D1,D2-striatum
D3-nucleus accumbens
D4-frontal cortex, limbic structures
D5-hippocampus
21
Q
This phenomenon is believed to represent an underlying tremor, that emerges faintly during manipulation described as ratchet-like resistance
A
cogwheel rigidity
22
Q
Refer specifically to the undifferentiated excessive movements that are induced in Parkinson patients at the peak of L-dopa effect
A
dyskinesia
23
Q
Refers to involuntary arrhythmic movements of a forcible, rapid jerky type
A
chorea
24
Q
A condition when the involuntary movements involve proximal limb muscles and are of wide range and flinging in nature
A
hemiballismus
25
The condition is characterized by an inability to sustain the fingers and toes, tongue or any other part of the body in one position
athetosis
26
What is the usual cause of bilateral ballismus?
nonketotic hyperosmolar coma
27
It is an unnatural spasmodic movement of posture that puts the limb in a twisted posture
Dystonia
28
Autosomal dominant dystonia-athetosis with marked diurnal fluctuation of symptoms responding to extremely low doses of L-dopa
Segawa disease
29
Drug of choice for paroxysmal kinesigenic choreoathetosis
Phenytoin and Carbamazepine
30
This is the commonest type of tremor that is unassociated with other neurologic changes
Essential tremors
31
In resistant cases of essential tremor, stimulation by electrodes in which parts of the brain produced durable response over the years?
Ventral medial nucleus of the thalamus and the internal segment of the globus pallidus
(basal ventrolateral nucleus in PD)
32
Coarse, rhythmic tremor with a frequency of 3-5 Hz
Parkinsonian tremor
33
This is a strongly familial episodic tremor disorder of the chin and lower lip that begins in childhood and may worsen with age resulting from a mutation on chromosome 9
Geniospasm
34
This is a rare but striking tremor isolated to the legs that is remarkable by its occurrence only during quiet standing and its cessation almost immediately on walking
Primary Orthostatic Tremor
35
Exaggeration of tremors by loading the limb is seen in_________?
Tremors of polyneuropathy and Psychogenic Tremors
36
A lesion of what cerebellar deep nucleus causes an ipsilateral tremor of ataxic type
Dentate nucleus
37
Specifies the very rapid, shock-like contractions of a group of muscles, irregular in rhythm and amplitude
Myoclonus
38
Special type of rhythmic epileptic activity in which one group of muscles is continuously involved in a series of rhythmic monophasic contractions
Epilepsia partialis continua
39
Focal myoclonic jerks are the main or sometimes only manifestation of a fairly common seizure disorder with distinctive EEG features
Juvenile Myoclonic Epilepsy
40
Familial form of diffuse, incapacitating intention myoclonus associated with visual loss and ataxia
Cherry Red Spot Myoclonus Syndrome
41
Specific enzyme defect in cherry-red-spot myoclonus syndrome
lysosomal alpha-neuroaminidase (sialidase)
42
Gene associated with generalized torsion dystonia
DYT1
43
most common mutation in hyperekplexia
1-subunit of the inhibitory glycine receptor GLRA1
44
It is the act of flexing the neck and bringing the arms close to the torso to reduce the intensity of startle attacks
Vigevano maneuver
45
most frequent form of restricted dystonia
Spasmodic torticollis
46
most prominently affected muscles in spasmodic torticollis
sternocleidomastoid, levator scapulae and trapezius
47
described as an inner feeling of restlessness, an inability to sit still and a compulsion to move about
Akathisia
48
Practically no disease affects all muscles in the body
true
49
T/F: Histochemical studies of skeletal muscles have disclosed that within any one muscle, there are subtle metabolic differences between fibres, certain ones (type 1 fibres) being richer in oxidative and poorer in glycolytic enzymes and others (type 2 fibres) having the opposite distribution.
True
50
T/F: In true physiologic contracture, a group of muscles, after a series of strong contractions, remain shortened for many minutes because of failure of the metabolic mechanisms necessary for relaxation.
True
51
T/F: Pseudocontracture is the common form of muscle and tendon shortening that follows prolonged fixation and inactivity of the normally innervated muscle as seen in an immobilised broken limb.
True
52
Another form of fibrous contracture as a result of reduced mobility of the developing joints consequent upon muscle weakness during metal development
Arthrogryposis
53
A state with areas of tenderness in muscles that otherwise function normally
Myogelosis
54
T/F: As a general rule, muscle diseases are identified by a predominantly proximal weakness that is symmetric
True
55
This is an idiopathic subacute or chronic and symmetrical weakness of proximal limb and trunk muscles without dermatitis
Polymyositis
56
T/F: CK levels tend to be higher in PM than in DM because of the widespread single-fibre necrosis in the former
True
57
T/F: The inflammatory infiltrates in Dermatomyositis predominate in the perimysial connective tissue whereas in polymyositis, they are scattered throughout the muscle.
True
58
T/F: Duchenne Muscular Dystrophy is transmitted as an X-linked recessive trait, occurring almost exclusively in males.
True
59
T/F: Duchenne Muscular Dystrophy is almost always recognized before the sixth year of life.
True
60
T/F: Mentation is usually normal and cardiac involvement is not frequent in Becker's Muscular Dystrophy.
True
61
Largest gene known in humans
Dystrophin gene
62
It is an X-linked muscular dystrophy characterized by a special feature of muscular contractures.
Emery-Dreifuss Muscular Dystrophy
63
This is a slowly progressive myopathy primarily involving and often limited to the extraocular muscles.
Progressive External Ophthalmoplegia
| (Kearns-Sayre Syndrome
64
Muscle protein absent in Miyoshi dystrophy
Dysferlin
65
T/F: Polymyositis evolves more rapidly than dystrophy
True
66
Main sarcoplasmic source of carbohydrate
Glycogen
67
Defective enzyme in Pompe's disease
Acid Maltase
68
Defective enzyme in McArdle's Disease
Myophosphorylase
69
Defective enzyme in Tarui Disease
Phosphofructokinase
70
T/F: Approximately 5% of patients with myasthenia have hyperthyroidism
True
71
T/F: Statins with higher lipid solubility appear to have a greater potential for toxicity as a result of their increased muscle penetration.
True
72
Treatment in Alcohol myopathy
Administration of Potassium chloride intravenously (about 120 meqs daily for several days)
73
Treatment in Alcohol myopathy
Administration of Potassium chloride intravenously (about 120 meqs daily for several days)
74
It is caused by congenital shortening of the sternocleidomastoid muscle
Congenital Torticollis
75
The unique feature of the disease is the presence in the central portion of each muscle fiber of a dense, amorphous condensation of myofibrils.
Central core myopathy
76
Normal Gomori-trichome stain of peripheral myofibrils
Blue-green
77
Refers to carpal spasms with occlusion of the blood supply to the arm
Trousseau sign
78
It is the major consideration in elderly and middle aged patients with pain in proximal muscleas of the limbs
Polymyalgia Rheumatica
79
The most valuable screening test in myalgia
Sedimentation rate and serum CK concentration
80
Gene affected in Myotonia congenita
Voltage-dependent chloride channel gene (CLCN1)
81
Mild form of Thomsen disease
Myotonia levior
82
Aberrant protein in hypertrophic myopathy
Myostatin
83
In this condition, weakness appearing after a period of rest that follows exercise is particularly characteristic
Hyperkalemic Periodic Paralysis
84
Refers to a severe persistent myotonia and marked hypertrophy of the muscles particularly of the neck and shoulders
Myotonia permanens
85
This causes the myotonia of hyperkalemic periodic paralysis
Repolarization is incomplete rendering the muscle cell more readily re-excited
86
Usual mutation in hypokalemic periodic paralysis?
gene that encodes the alpha-subunit of the calcium channel of skeletal muscle
87
T/F: Approximately 10% of hypokalemic periodic paralysis are due to mutation of the sodium channel SCN4A.
True
88
T/F: Hypokalemic periodic paralysis has become clinically apparent after adolescence and has been much more severe in males.
True
89
Most striking pathologic change in hypokalemic periodic paralysis?
Vacuolization of the sarcoplasm
90
Anesthetic agent particularly associated with malignant hyperthermia
Halothane
| muscle relaxant - succinylcholine
91
Characterized by the triad of periodic potassium-sensitive weakness, ventricular dysrhythmias with long QT syndrome and dysmorphic features
Andersen disease
92
Autoantibodies that are reactive to this enzyme is seen in two-thirds of the cases of stiff man syndrome
Glutamic Acid Decarboxylase
93
T/F: Most of the degenerative diseases are characterised by the selective involvement of anatomically and physiologically related systems of neurons.
True
94
Part of the brain with the most accelerated rate of cerebral atrophy in Alzheimer disease.
Hippocampus and medial parts if the temporal lobe
95
T/F: If there is hemiplegia, homonymous hemianopia and the like, the diagnosis of Alzheimer disease is incorrect.
True
96
T/F: Convulsions are rare in Alzheimer disease until late in the illness when up to 5% of patients have infrequent seizures.
True
97
What are the three microscopic changes in Alzheimer disease?
1) Neurofibrillary tangles 2) Spherical deposits of amorphous material 3) Granulovacuolar degeneration
98
Which of the microscopic changes correlate best with the severity of dementia?
Neurofibrillary tangles
99
It is a discrete cytoskeletal protein that promotes the assembly of microtubules and stabilises their structure.
Tau
100
The AB protein is a small portion of what larger unit
Amyloid Precursor Protein
101
The ratio of AB42 to AB40 is increased in what condition?
Down Syndrome
102
Of the several isoforms of ApoE, this is associated with a tripling of the risk of developing sporadic Alzheimer disease.
Allele E4 in chromosome 19
103
The distinctive feature has been the presence at autopsy of large eosinophilic PAS-positive intraneuronal inclusions
Neuroserpinopathy
104
T/F: Individuals with 35-39 CAG triplets may eventually manifest the disease but it tends to be late in onset and mild in degree or limited to the below-mentioned "senile chorea"
True
105
The dopamine antagonist of choice which is effective in partially suppressing Huntington disease.
Haloperidol
106
A progressive neurologic disease characterised by spasticity, chorea, dementia and a predominantly sensory polyneuropathy.
Adult Polyglucosan Body Disease
107
T/F: The usual blink rate of 12-20/min is reduced in the parkinsonian patient to 5-10/min and with it, there is a slight widening of the palpebral fissures.
True
108
Rate-limiting enzyme for the synthesis of Dopamine
Tyrosine Hydroxylase
109
Diet advocated as a means of controlling the motor fluctuations
Low-protein diet
110
T/F: The lack of response to L-dopa is probably attributable to the loss of striatal dopamine receptors in MSA.
True
111
T/F: The bell phenomenon is eventually lost in PSP
True
112
The applause sign is distinctive in what condition?
PSP
113
T/F: As little as 10mg/kg/day may eliminate the movement disorder of juvenile dystonia-parkinsonism syndrome
True
114
T/F: Inherited ataxias of early onset (before the age of 20 years) are usually of recessive type.
True
115
Mutation in Friedreich ataxia
GAA trinucleotide repeat within a gene that codes for the protein Frataxin
116
T/F: Most of the degenerative diseases are characterized by the selective involvement of anatomically and physiologically related systems of neurons.
True
117
T/F: the survival of patients with Alzheimer disease is reduced to half the expected rate, mainly because of respiratory and cardiovascular causes and inanition.
True
118
The weight of the brain is usually reduced by how many percent in the advanced stage of Alzheimer's disease?
20%
119
T/F: An initial diagnosis of depression has been common in the behavioral variant FTLD.
True
120
It is the main component of the Lewy body
Aggregated alpha-synuclein
121
Early signs of Huntington disease
Slowness of movement of the fingers and hands, reduced rate of finger tapping, difficulty in performing a sequence of hand movements
122
T/F: The presence of more than 39 CAG repeats at the Huntington locus essentially confirms the disease and gives some indication of the expected time of onset.
True
123
Characterized by gradual development of chorea in middle to late life and is characterized by the degeneration of the caudate and putamen and a myopathy.
McLeod disease
124
The most common early complaint in PSP
Unsteadiness of gait and unexplained falling without loss of consciousness
125
By MRI, this condition gives rise to "mouse ears" configuration of the dorsal mesencephalon.
Progressive Supranuclear Palsy
126
This drug has been reported to ameliorate the akinesia and rigidity of PSP.
Zolpidem
127
Most common mutation causing deletion of a single glutamate from the torsin A peptide found in most cases of dystonia musculorum deformans.
DYT1
128
Dystonia with features of parkinsonism which is responsive to L-dopa.
Segawa syndrome
129
T/F: Inherited ataxias of early onset are usually of recessive type; those of the later onset are more likely to have a dominant pattern but may be autosomal recessive.
True
130
This disorder is characterized by an autosomal dominant pattern of inheritance and by slowly progreasive ataxia beginning in adolescence or early adult life in association with hyperreflexia, extrapyramidal features, dystonia, bulbar signs, distal motor weakness and ophthalmoplegia.
Machado-Joseph-Azorean disease (SCA3)
131
Approximately how many percent of the cases of ALS are observed in conjunction with FTLD?
5%
132
T/F: With the exception of riluzole, there is no specific treatment for any of the motor neuron diseases.
True
133
It is the most frequent cause of death from a recessively inherited disease after cystic fibrosis.
Werdnig-Hoffman disease (SMA 1)
134
First symptom usually of retinitis pigmentosa
Nyctalopia
135
Trinucleotide repeat disorder of Huntington disease and spinocerebellar ataxia
CAG
136
Trinucleotide repeat disorder of Fragile X syndrome
CGG
137
Trinucleotide repeat disorder of Myotonic Dystrophy
CTG
138
T/F: 4R/3R tau is 1:1 in FTD and PSP.
FALSE (1:1 in FTD and PSP)
139
T/F: Leuco-methylthioninium is a potential drug in Phase 3 clinical trials for AD and FTD acting as tau aggregation inhibitor.
True
140
T/F:REM sleep behavior disorders are most common in taupathies.
True
141
Movement disorder with highest risk for depression with suicide.
Huntington's disease
142
Among the cardinal features of Parkinson disease, which among the following is the most disabling?
Postural instability
143
Characterized by Papp Lantos inclusions
Multisystem Atrophy
144
Characterized by swollen cortical neurons (ballooned neurons), tau containing astrocytes
Corticobasalganglionic degeneration
145
A syndrome of progressive dementia without pyramidal, extrapyramidal, cerebellar or autonomic dysfunction.
Alzheimer Disease
146
Drug of choice for Lewy-Body Dementia
Rivstigmine
147
Type of Dementia sometimes associated with ALS
FTD
148
Most important genetic mutation in located on?
Chromosome 17q21-22
149
T/F: possession of the e4 allele correlates with decreased deposition of AB in the brain.
False (increased)
150
The e4 allele accelerates the appearance of Alzheimer disease by how many years?
5 years
151
Most disabling clinical feature of Alzheimer disease
Executive dysfunction
152
It is the most severe type of SMA
SMA Type 1
153
Proportion of Friedreich ataxia patients presenting with the notable feature of cardiomyopathy
More than half
154
T/F: Morphometric studies of atrophy in elderly people suggest that the greater loss of volume in the cerebrum is from the white matter rather than the grey matter.
True
155
Primary risk factor for the development of dementia and AD
Age
156
T/F: the morphology of neurofibrillary tangles varies with the nature of the neurons in which they reside.
True
157
Thread-like structures distributed widely in the grey matter in AD
Neuropil threads
158
Chronic traumatic encephalopathy of boxing with progressive cognitive dysfunction
Dementia pugilistica
159
T/F: the gene encoding APP is located in chromosome 21.
True
160
What percentage of AD is familial?
10%
161
Chromosome associated with the amyloid precursor protein
Chromosome 21
162
T/F: In AD, the tau deposits (NFTs and neuropil threads) are present in the neuronal body and dendrites.
True
163
Main component of neurofibrillary tangles
Tau protein
164
The amount of beta amyloid made by cells of a patient with Down syndrome is how many times that of normal
1.5x
165
APO E genotype which confers the lowest risk for dementia
APO E2/2
166
Enzyme most critical to formation of neuritic plaques and subsequent cerebral atrophy with Alzheimer disease
Secretase
167
Frontotemporal dementia element linked to tau gene mutation in chromosome 17
Dementia with Parkinsonism
168
Type of spinocerebellar ataxia secondary to calcium channel defect
SCA 6
