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Adams Principles of Neurology > Degenerative > Flashcards

Degenerative Flashcards

1
Q

Final common pathway by which all neural impulses are transmitted to muscle

A

lower motor neurons

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2
Q

refers to the isolated activity of individual muscle fibers

A

fibrillation

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3
Q

refers to the visible twitch of a muscle fascicle

A

fasciculation

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4
Q

A condition characterized as simultaneous or sequential spontaneous contractions of multiple motor units causing a rippling of muscle

A

myokymia

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5
Q

Neurotransmitter released by Renshaw cells which are responsible for recurrent inhibition

A

Glycine

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6
Q

Serves as the inhibitory neurotransmitter of interneurons in the posterior horn

A

Gamma-aminobutyric acid (GABA)

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7
Q

The denervated muscle in LMN lesions undergoes extreme atrophy by how many percent in 3-4 months?

A

20-30%

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8
Q

The only direct long-fiber connection between the cerebral cortex and the spinal cord

A

Corticospinal tract

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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

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10
Q

Neurotransmitter of the corticospinal tract

A

Glutamic Acid

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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

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12
Q

most commonly observed of all apraxias in practice

A

oral-buccal-lingual apraxia

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13
Q

commonest form of paralysis

A

hemiplegia

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14
Q

most common cause of acute paraplegia

A

trauma

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15
Q

helpful in distinguishing hysterical from organic hemiplegia manifested as the presence of downward pressure of the paralyzed leg

A

Hoover sign

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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

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17
Q

The enhanced conduction through the indirect pathway leads to hypokinesia by _________ pallidothalamic inhibition.

A

increasing

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18
Q

Toxin which leads to the discovery of the parkinsonian syndrome

A

1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)

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19
Q

The highest concentration of acetylcholine is located in which part of the basal ganglia?

A

striatum

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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

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21
Q

This phenomenon is believed to represent an underlying tremor, that emerges faintly during manipulation described as ratchet-like resistance

A

cogwheel rigidity

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22
Q

Refer specifically to the undifferentiated excessive movements that are induced in Parkinson patients at the peak of L-dopa effect

A

dyskinesia

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23
Q

Refers to involuntary arrhythmic movements of a forcible, rapid jerky type

A

chorea

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24
Q

A condition when the involuntary movements involve proximal limb muscles and are of wide range and flinging in nature

A

hemiballismus

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25
Q

The condition is characterized by an inability to sustain the fingers and toes, tongue or any other part of the body in one position

A

athetosis

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26
Q

What is the usual cause of bilateral ballismus?

A

nonketotic hyperosmolar coma

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27
Q

It is an unnatural spasmodic movement of posture that puts the limb in a twisted posture

A

Dystonia

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28
Q

Autosomal dominant dystonia-athetosis with marked diurnal fluctuation of symptoms responding to extremely low doses of L-dopa

A

Segawa disease

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29
Q

Drug of choice for paroxysmal kinesigenic choreoathetosis

A

Phenytoin and Carbamazepine

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30
Q

This is the commonest type of tremor that is unassociated with other neurologic changes

A

Essential tremors

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31
Q

In resistant cases of essential tremor, stimulation by electrodes in which parts of the brain produced durable response over the years?

A

Ventral medial nucleus of the thalamus and the internal segment of the globus pallidus
(basal ventrolateral nucleus in PD)

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32
Q

Coarse, rhythmic tremor with a frequency of 3-5 Hz

A

Parkinsonian tremor

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33
Q

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

A

Geniospasm

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34
Q

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

A

Primary Orthostatic Tremor

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35
Q

Exaggeration of tremors by loading the limb is seen in_________?

A

Tremors of polyneuropathy and Psychogenic Tremors

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36
Q

A lesion of what cerebellar deep nucleus causes an ipsilateral tremor of ataxic type

A

Dentate nucleus

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37
Q

Specifies the very rapid, shock-like contractions of a group of muscles, irregular in rhythm and amplitude

A

Myoclonus

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38
Q

Special type of rhythmic epileptic activity in which one group of muscles is continuously involved in a series of rhythmic monophasic contractions

A

Epilepsia partialis continua

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39
Q

Focal myoclonic jerks are the main or sometimes only manifestation of a fairly common seizure disorder with distinctive EEG features

A

Juvenile Myoclonic Epilepsy

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40
Q

Familial form of diffuse, incapacitating intention myoclonus associated with visual loss and ataxia

A

Cherry Red Spot Myoclonus Syndrome

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41
Q

Specific enzyme defect in cherry-red-spot myoclonus syndrome

A

lysosomal alpha-neuroaminidase (sialidase)

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42
Q

Gene associated with generalized torsion dystonia

A

DYT1

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43
Q

most common mutation in hyperekplexia

A

1-subunit of the inhibitory glycine receptor GLRA1

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44
Q

It is the act of flexing the neck and bringing the arms close to the torso to reduce the intensity of startle attacks

A

Vigevano maneuver

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45
Q

most frequent form of restricted dystonia

A

Spasmodic torticollis

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46
Q

most prominently affected muscles in spasmodic torticollis

A

sternocleidomastoid, levator scapulae and trapezius

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47
Q

described as an inner feeling of restlessness, an inability to sit still and a compulsion to move about

A

Akathisia

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48
Q

Practically no disease affects all muscles in the body

A

true

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49
Q

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.

A

True

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50
Q

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.

A

True

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51
Q

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.

A

True

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52
Q

Another form of fibrous contracture as a result of reduced mobility of the developing joints consequent upon muscle weakness during metal development

A

Arthrogryposis

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53
Q

A state with areas of tenderness in muscles that otherwise function normally

A

Myogelosis

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54
Q

T/F: As a general rule, muscle diseases are identified by a predominantly proximal weakness that is symmetric

A

True

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55
Q

This is an idiopathic subacute or chronic and symmetrical weakness of proximal limb and trunk muscles without dermatitis

A

Polymyositis

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56
Q

T/F: CK levels tend to be higher in PM than in DM because of the widespread single-fibre necrosis in the former

A

True

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57
Q

T/F: The inflammatory infiltrates in Dermatomyositis predominate in the perimysial connective tissue whereas in polymyositis, they are scattered throughout the muscle.

A

True

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58
Q

T/F: Duchenne Muscular Dystrophy is transmitted as an X-linked recessive trait, occurring almost exclusively in males.

A

True

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59
Q

T/F: Duchenne Muscular Dystrophy is almost always recognized before the sixth year of life.

A

True

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60
Q

T/F: Mentation is usually normal and cardiac involvement is not frequent in Becker’s Muscular Dystrophy.

A

True

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61
Q

Largest gene known in humans

A

Dystrophin gene

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62
Q

It is an X-linked muscular dystrophy characterized by a special feature of muscular contractures.

A

Emery-Dreifuss Muscular Dystrophy

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63
Q

This is a slowly progressive myopathy primarily involving and often limited to the extraocular muscles.

A

Progressive External Ophthalmoplegia

(Kearns-Sayre Syndrome

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64
Q

Muscle protein absent in Miyoshi dystrophy

A

Dysferlin

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65
Q

T/F: Polymyositis evolves more rapidly than dystrophy

A

True

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66
Q

Main sarcoplasmic source of carbohydrate

A

Glycogen

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67
Q

Defective enzyme in Pompe’s disease

A

Acid Maltase

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68
Q

Defective enzyme in McArdle’s Disease

A

Myophosphorylase

69
Q

Defective enzyme in Tarui Disease

A

Phosphofructokinase

70
Q

T/F: Approximately 5% of patients with myasthenia have hyperthyroidism

A

True

71
Q

T/F: Statins with higher lipid solubility appear to have a greater potential for toxicity as a result of their increased muscle penetration.

A

True

72
Q

Treatment in Alcohol myopathy

A

Administration of Potassium chloride intravenously (about 120 meqs daily for several days)

73
Q

Treatment in Alcohol myopathy

A

Administration of Potassium chloride intravenously (about 120 meqs daily for several days)

74
Q

It is caused by congenital shortening of the sternocleidomastoid muscle

A

Congenital Torticollis

75
Q

The unique feature of the disease is the presence in the central portion of each muscle fiber of a dense, amorphous condensation of myofibrils.

A

Central core myopathy

76
Q

Normal Gomori-trichome stain of peripheral myofibrils

A

Blue-green

77
Q

Refers to carpal spasms with occlusion of the blood supply to the arm

A

Trousseau sign

78
Q

It is the major consideration in elderly and middle aged patients with pain in proximal muscleas of the limbs

A

Polymyalgia Rheumatica

79
Q

The most valuable screening test in myalgia

A

Sedimentation rate and serum CK concentration

80
Q

Gene affected in Myotonia congenita

A

Voltage-dependent chloride channel gene (CLCN1)

81
Q

Mild form of Thomsen disease

A

Myotonia levior

82
Q

Aberrant protein in hypertrophic myopathy

A

Myostatin

83
Q

In this condition, weakness appearing after a period of rest that follows exercise is particularly characteristic

A

Hyperkalemic Periodic Paralysis

84
Q

Refers to a severe persistent myotonia and marked hypertrophy of the muscles particularly of the neck and shoulders

A

Myotonia permanens

85
Q

This causes the myotonia of hyperkalemic periodic paralysis

A

Repolarization is incomplete rendering the muscle cell more readily re-excited

86
Q

Usual mutation in hypokalemic periodic paralysis?

A

gene that encodes the alpha-subunit of the calcium channel of skeletal muscle

87
Q

T/F: Approximately 10% of hypokalemic periodic paralysis are due to mutation of the sodium channel SCN4A.

A

True

88
Q

T/F: Hypokalemic periodic paralysis has become clinically apparent after adolescence and has been much more severe in males.

A

True

89
Q

Most striking pathologic change in hypokalemic periodic paralysis?

A

Vacuolization of the sarcoplasm

90
Q

Anesthetic agent particularly associated with malignant hyperthermia

A

Halothane

muscle relaxant - succinylcholine

91
Q

Characterized by the triad of periodic potassium-sensitive weakness, ventricular dysrhythmias with long QT syndrome and dysmorphic features

A

Andersen disease

92
Q

Autoantibodies that are reactive to this enzyme is seen in two-thirds of the cases of stiff man syndrome

A

Glutamic Acid Decarboxylase

93
Q

T/F: Most of the degenerative diseases are characterised by the selective involvement of anatomically and physiologically related systems of neurons.

A

True

94
Q

Part of the brain with the most accelerated rate of cerebral atrophy in Alzheimer disease.

A

Hippocampus and medial parts if the temporal lobe

95
Q

T/F: If there is hemiplegia, homonymous hemianopia and the like, the diagnosis of Alzheimer disease is incorrect.

A

True

96
Q

T/F: Convulsions are rare in Alzheimer disease until late in the illness when up to 5% of patients have infrequent seizures.

A

True

97
Q

What are the three microscopic changes in Alzheimer disease?

A

1) Neurofibrillary tangles 2) Spherical deposits of amorphous material 3) Granulovacuolar degeneration

98
Q

Which of the microscopic changes correlate best with the severity of dementia?

A

Neurofibrillary tangles

99
Q

It is a discrete cytoskeletal protein that promotes the assembly of microtubules and stabilises their structure.

A

Tau

100
Q

The AB protein is a small portion of what larger unit

A

Amyloid Precursor Protein

101
Q

The ratio of AB42 to AB40 is increased in what condition?

A

Down Syndrome

102
Q

Of the several isoforms of ApoE, this is associated with a tripling of the risk of developing sporadic Alzheimer disease.

A

Allele E4 in chromosome 19

103
Q

The distinctive feature has been the presence at autopsy of large eosinophilic PAS-positive intraneuronal inclusions

A

Neuroserpinopathy

104
Q

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”

A

True

105
Q

The dopamine antagonist of choice which is effective in partially suppressing Huntington disease.

A

Haloperidol

106
Q

A progressive neurologic disease characterised by spasticity, chorea, dementia and a predominantly sensory polyneuropathy.

A

Adult Polyglucosan Body Disease

107
Q

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.

A

True

108
Q

Rate-limiting enzyme for the synthesis of Dopamine

A

Tyrosine Hydroxylase

109
Q

Diet advocated as a means of controlling the motor fluctuations

A

Low-protein diet

110
Q

T/F: The lack of response to L-dopa is probably attributable to the loss of striatal dopamine receptors in MSA.

A

True

111
Q

T/F: The bell phenomenon is eventually lost in PSP

A

True

112
Q

The applause sign is distinctive in what condition?

A

PSP

113
Q

T/F: As little as 10mg/kg/day may eliminate the movement disorder of juvenile dystonia-parkinsonism syndrome

A

True

114
Q

T/F: Inherited ataxias of early onset (before the age of 20 years) are usually of recessive type.

A

True

115
Q

Mutation in Friedreich ataxia

A

GAA trinucleotide repeat within a gene that codes for the protein Frataxin

116
Q

T/F: Most of the degenerative diseases are characterized by the selective involvement of anatomically and physiologically related systems of neurons.

A

True

117
Q

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.

A

True

118
Q

The weight of the brain is usually reduced by how many percent in the advanced stage of Alzheimer’s disease?

A

20%

119
Q

T/F: An initial diagnosis of depression has been common in the behavioral variant FTLD.

A

True

120
Q

It is the main component of the Lewy body

A

Aggregated alpha-synuclein

121
Q

Early signs of Huntington disease

A

Slowness of movement of the fingers and hands, reduced rate of finger tapping, difficulty in performing a sequence of hand movements

122
Q

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.

A

True

123
Q

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.

A

McLeod disease

124
Q

The most common early complaint in PSP

A

Unsteadiness of gait and unexplained falling without loss of consciousness

125
Q

By MRI, this condition gives rise to “mouse ears” configuration of the dorsal mesencephalon.

A

Progressive Supranuclear Palsy

126
Q

This drug has been reported to ameliorate the akinesia and rigidity of PSP.

A

Zolpidem

127
Q

Most common mutation causing deletion of a single glutamate from the torsin A peptide found in most cases of dystonia musculorum deformans.

A

DYT1

128
Q

Dystonia with features of parkinsonism which is responsive to L-dopa.

A

Segawa syndrome

129
Q

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.

A

True

130
Q

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.

A

Machado-Joseph-Azorean disease (SCA3)

131
Q

Approximately how many percent of the cases of ALS are observed in conjunction with FTLD?

A

5%

132
Q

T/F: With the exception of riluzole, there is no specific treatment for any of the motor neuron diseases.

A

True

133
Q

It is the most frequent cause of death from a recessively inherited disease after cystic fibrosis.

A

Werdnig-Hoffman disease (SMA 1)

134
Q

First symptom usually of retinitis pigmentosa

A

Nyctalopia

135
Q

Trinucleotide repeat disorder of Huntington disease and spinocerebellar ataxia

A

CAG

136
Q

Trinucleotide repeat disorder of Fragile X syndrome

A

CGG

137
Q

Trinucleotide repeat disorder of Myotonic Dystrophy

A

CTG

138
Q

T/F: 4R/3R tau is 1:1 in FTD and PSP.

A

FALSE (1:1 in FTD and PSP)

139
Q

T/F: Leuco-methylthioninium is a potential drug in Phase 3 clinical trials for AD and FTD acting as tau aggregation inhibitor.

A

True

140
Q

T/F:REM sleep behavior disorders are most common in taupathies.

A

True

141
Q

Movement disorder with highest risk for depression with suicide.

A

Huntington’s disease

142
Q

Among the cardinal features of Parkinson disease, which among the following is the most disabling?

A

Postural instability

143
Q

Characterized by Papp Lantos inclusions

A

Multisystem Atrophy

144
Q

Characterized by swollen cortical neurons (ballooned neurons), tau containing astrocytes

A

Corticobasalganglionic degeneration

145
Q

A syndrome of progressive dementia without pyramidal, extrapyramidal, cerebellar or autonomic dysfunction.

A

Alzheimer Disease

146
Q

Drug of choice for Lewy-Body Dementia

A

Rivstigmine

147
Q

Type of Dementia sometimes associated with ALS

A

FTD

148
Q

Most important genetic mutation in located on?

A

Chromosome 17q21-22

149
Q

T/F: possession of the e4 allele correlates with decreased deposition of AB in the brain.

A

False (increased)

150
Q

The e4 allele accelerates the appearance of Alzheimer disease by how many years?

A

5 years

151
Q

Most disabling clinical feature of Alzheimer disease

A

Executive dysfunction

152
Q

It is the most severe type of SMA

A

SMA Type 1

153
Q

Proportion of Friedreich ataxia patients presenting with the notable feature of cardiomyopathy

A

More than half

154
Q

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.

A

True

155
Q

Primary risk factor for the development of dementia and AD

A

Age

156
Q

T/F: the morphology of neurofibrillary tangles varies with the nature of the neurons in which they reside.

A

True

157
Q

Thread-like structures distributed widely in the grey matter in AD

A

Neuropil threads

158
Q

Chronic traumatic encephalopathy of boxing with progressive cognitive dysfunction

A

Dementia pugilistica

159
Q

T/F: the gene encoding APP is located in chromosome 21.

A

True

160
Q

What percentage of AD is familial?

A

10%

161
Q

Chromosome associated with the amyloid precursor protein

A

Chromosome 21

162
Q

T/F: In AD, the tau deposits (NFTs and neuropil threads) are present in the neuronal body and dendrites.

A

True

163
Q

Main component of neurofibrillary tangles

A

Tau protein

164
Q

The amount of beta amyloid made by cells of a patient with Down syndrome is how many times that of normal

A

1.5x

165
Q

APO E genotype which confers the lowest risk for dementia

A

APO E2/2

166
Q

Enzyme most critical to formation of neuritic plaques and subsequent cerebral atrophy with Alzheimer disease

A

Secretase

167
Q

Frontotemporal dementia element linked to tau gene mutation in chromosome 17

A

Dementia with Parkinsonism

168
Q

Type of spinocerebellar ataxia secondary to calcium channel defect

A

SCA 6

Adams Principles of Neurology (19 decks)

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