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Neurodegenerative disorder > Neurodegenerative Disorder > Flashcards

Neurodegenerative Disorder Flashcards

1
Q

Familial AD inheritance of ALS is associatied with mutation of what gene

A

C9orf72 gene

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2
Q

OPA3 mutation results to

A

HSP + optic atrophy

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3
Q

What is confirmatory in diagnosing HD

A

DNA blood sample with 39 CAG repeats

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4
Q

How many CAG repeats will manifest as mild form of chorea

A

35-39

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5
Q

What suppress the movement in Huntington Disease

A

Haloperidol

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6
Q

Tetrad of parkinson

A

Bradykinesia
Resting Tremor
Postural instability
Rigidity

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7
Q

vertigo is the prominent feature of this EA

A

EA type 2

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8
Q

HSP + Macular degeneration

A

Kjellum Syndrome

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9
Q

What type of atrophy observed in SMA1

A

group atrophy

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10
Q

Pathologic findings of Dentatorubral degeneration

A

Cerebellar atrophy and posterior column and spinocerebellar tract (similar with friedrich buy severe of dentate)

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11
Q

MRI findings of behavioral variant

A

atrophy of frontal lobe

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12
Q

Pathology of Lobar atrophies

A

60% no characteristic findings

20% Pick bodies

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13
Q

Rosenver Chutorian Disease

A

Optic atrophy with polyneuropathy

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14
Q

Neurologic manifestation of posterior cortical atrophy

A

prosopognosia
Impaired depth perception
Achromatopsia
Dyslexia

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15
Q

What is the genetic defect in Kennedy Syndrome

A

CAG expansion that code for androgen receptor on the short arm of X-Chromosome

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16
Q

What is the gene involved in Dystonua Musculurum Deformans

A

DYT1 in Chr 9q

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17
Q

What genes are involved in late onset AD

A

ApoE
UBQLN1
TREM2

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18
Q

This gene is related to cone-rod dystrophy

A

ABCA4

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19
Q

What is most frequent pathologic diagnosis in established globally demented patient next to AD

A

Lewy Body Dementia

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20
Q

a.k.a. Jakob Disease

A

Corticostriatospinal degeneration

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21
Q

What medication given for psychosis aggression and psychosis

A

Olanzapine, Quietiapine and Risperidone

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22
Q

Type 2 EA respond to

A

Acetazolamide

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23
Q

Exaggerated jaw jerk, fasciculation of tongue, pseudobulbar signs, and dysarthric speech

A

Progressive Bulbar Palsy

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24
Q

Aggregation of this is a toxic model for AD

A

AB42

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25
Q

What is the most striking in behavioral variant lobar atrophy

A

intraneuronal deposition of tau in frontotemporal lobe and substantia nigra

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26
Q

Mechanism of action of Rasagiline

A

MAO-B inhibitor

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27
Q

Pureform Cerebellar ataxia is also known as

A

Cortical or Holmes Type

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28
Q

HSP + dementia involved mutation of this gene

A

ALDH3A2

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29
Q

2 variants of lobar atrophy

A

a. Behavioral

b. Primary progressive aphasia

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30
Q

Intermediate SMA I and SMA III but designated as SMA III

A

Dubowitz Syndrome

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31
Q

This triple the risk of sporadic AD

A

APOe4

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32
Q

Mutation of this gene is involved in MSA

A

COQ2

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33
Q

What is the mechanism of action of Rilozole

A

Antiglutamate agent

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34
Q

Before concluding ALS the EMG study should be

A

denervation must be available in 3 limbs

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35
Q

Involve lower motor nuclei of the lower brainstem

A

Progressive bulbar palsy

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36
Q

Haplotype gene involved in AD

A

ApoE

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37
Q

What’s the reason for orthostatic hypotension in Lewy Body dementia

A

involvement of the intermediolateral horn of the the SC

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38
Q

What are neurotransmitter abnormalities in AD

A

Reduced choline ACHase and ACH
Glutamate
Glucose

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39
Q

Seizure in AD

A

myoclonus and choreoathetosis

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40
Q

The Criteria of NINCD and ADRDA have accuracy rate in diagnosing AD

A

85%

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41
Q

The age of onset in Dentatopallidoluysian is inversely proportional to

A

size of gene expansion

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42
Q

Other name for Spinal Muscular Atrophy

A

Wernig-Hoffman Disease

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43
Q

HSP + ataxia

A

Fergusson Critchely Syndrome

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44
Q

All SMA mapped to chromosome __________ located at the gene _________

A

5q11.2-13.3 /. Survival motor neuron

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45
Q

Triad of ALS

A

Atrophy with fasciculation
Spascticity
Generalized hyperreflexia

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46
Q

Facial weakness, dysarthria, dysphagia, atrophy of tongue

A

Bulbopontine paralysis

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47
Q

MRI findings of Fragile X

A

T2 hyperintensity in cerebellar peduncle

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48
Q

2 types of Spinal Muscular Atrophy

A
  1. Infantile Spinal Muscle Atrophy SMA I

2. SMA II and SMA III

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49
Q

Hearing loss + sensory radiculopathy

A

Denny Brown

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50
Q

Characterized by hypotonia, decrease volume of muscle and assume a frog position

A

SMA1

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51
Q

It interact with Y-secretase enzyme that produces AB42

A

Presenellin 1 & 2

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52
Q

What are the placement points of DBS

A

GPi, VLT and subthalamic nucleus

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53
Q

Characterized by behavioral changes and personality changes. Insight is always impaired

A

Behavioral variant

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54
Q

Pathologic findings in idiopathic PD

A

Lewy body nuclei containing eosinophil

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55
Q

Norrie Disease

A

retinal malformation, MR and Hearing loss

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56
Q

What are the protective agents for parkinsons disease

A

Smoking and coffee

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57
Q

What is atrophied in Corticobasal degeneration

A

Frontal motor and anterior parietal

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58
Q

Characteristic feature is spastic paraparesis and spatic bladder

A

Primary lateral sclerosis

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59
Q

What type of defect of GAA is seen in Friedrich ataxia

A

Missense

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60
Q

What study stated that poorer linguistic capability in early life correspond to development of AD

A

Nun Study

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61
Q

Type of atrophy in Chronic Childhood and Juvenile Proximal SMA

A

Neural Atrophy

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62
Q

Age of onset of Primary lateral sclerosis

A

5th-6th decade of life

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63
Q

The pathologic findings consistent of this conditions are loss of nerve cells in AHC, corticospinal tract degeneration and loss of BETZ cells in frontal lobe

A

ALS

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64
Q

Chromosome involve in EA-Type 2

A

Chr19

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65
Q

What correlates with increased deposition of AB in the brain

A

E4

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66
Q

Sporadic form of behavioral variant lobar atrophy has a mutation of this gene

A

Chr. 17

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67
Q

AR hearing loss and ataxia

A
  1. Lichtenstein-Knorr Syndrome -
  2. Richards-Rundle Syndrome - hypogonadism and MR
  3. Jeune-Tommasi Syndrome - MR
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68
Q

This is secondary to defect of maternal mitcohondrial DNA where daughters are carrier where it begins as eye pain then progress to blindness of central vision initially then periphery

A

Leber Hereditary Atrophy

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69
Q

2 Category of Acanthocytosis with chorea

A
  1. Defect in RBC lipid membrane

2. Lacks lipid abnormality

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70
Q

Early sign of polyglucosan body disease

A

Bladder dysfunction

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71
Q

what generates the full length fully functional SMN

A

SMN1

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72
Q

This is a prototype of all form of progressive ataxia

A

Friedrich Ataxia

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73
Q

Preserve motor neuron in the spinal cord with degeneration of corticospinal tract

A

Primary lateral sclerosis

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74
Q

Components of Lewy Body (2)

A

Ubiquitin

Synuclein

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75
Q

What is the mechanism of disease in Progressive Muscular Atrophy

A

Immune-mediated motor neuropathy that occurs with or withour motor block

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76
Q

Loss of DTR in Friedrich ataxia is secondary to

A

loss of cells in sensory ganglia

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77
Q

Genes involved in PD where inheritance is AR

A

Park 2 and Park 6

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78
Q

Most disabling aspect of the disease in AD

A

Executive Function

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79
Q

Retinal disease with photosenstivity dermatitis

A

Cockayne Syndrome

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80
Q

Strumpell-Lorraine Disese is divided into 2 age group:

A

a. Beginning before 35

b. Late onset

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81
Q

This gene bind to surface antigen on red cell

A

KY gene

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82
Q

How is PSP inherited

A

Autosomal dominant

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83
Q

Found in the pyramdal layer of hippocampus and secondary to defect in phagocytosis of degraded protien

A

Granulovascular Degeneration

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84
Q

MRI findings of Polyglucosan Bodies

A

Whitematter changes with degeneration of corticospinal tract

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85
Q

Criteria in Diagnosing AD (NINCD) and (ADRDA)

A
  1. Dementia defined by clinical examination
  2. Patients 40 years and older
  3. Deficit in 2 or more areas of cognition
  4. Absence in disturbance of consciousness
  5. Exclusion of other brain disease
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86
Q

What is the initial symptoms of Retinitis pigmentosa

A

Nyctalopia

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87
Q

Pattern of inheritance of Kennedy Syndrome

A

X-Linked

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88
Q

This is a variant of HD where parkinsonian and rigidity is its main manifestation, where inability to protruded tongue is characteristic

A

Westphal/Rigid Variant

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89
Q

Characterized by progressive cerebellar ataxia with myoclonus

A

Dentatorubral degeneration

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90
Q

Age of onset of Stagardt Disease

A

6-20 years old

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91
Q

Essential type of tremor in PD is characterized by

A

7-8Hz/sec slightly irregular action tremor of the outsretched hand

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92
Q

What is the pathognomonic findings of Stegardt Disease

A

Dark choroid pattern in angiography

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93
Q

What is the drug of choice in the management of tremor

A

Trihexyphenidyl
Benztropine
Ethoproprazine

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94
Q

What is COQ2 gene

A

involves for encoding for a protein involving in synthesis of co-enzyme Q2

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95
Q

This is an AR where consanguinity plays an important role

A

Retinitis pigmentosa

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96
Q

Discrete cytoskeletal CHON that promote assembly of microtubules

A

Tau

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97
Q

Denervation of these muscles suggest ALS

A

genoglossus and facial muscle

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98
Q

Mickey Mouse sign is seen in what condition

A

Progressive Supranuclear Palsy

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99
Q

In HD, the presence of movement disorder alone without cognitive abnormalities is associated with

A

Fewer CAG repeats

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100
Q

This condition is characterized by behavioral disturbance precede memory difficulties

A

Agyrophilic Grain Disease

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101
Q

What is the affected cortical region in agyrophilic grain disease

A

Medialtemporal lobe

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102
Q

These are group of progressive degenerating disorders of motor neuron in cortex, spinal, BS

A

Motor Neuron Disease

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103
Q

X-Linked Aspect of Hereditary Spastic Paraplegia

A

LICAM and PLP2

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104
Q

This is a critical to neuronal toxicity of amyloid

A

Ratio of AB42 to AB40

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105
Q

This condition is characterized by trinucleotide repeat and breakge of X-chromosome

A

Fragile X Tremor Permutation

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106
Q

The function of Chr14q is involve in

A

synthesis of tetrahydrobiopterin

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107
Q

Drug of choice for psychiatric symptoms

A

Atypical antipsychotics (clozapine)

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108
Q

This condition is characterized by gradual developmentr of spastic weakness with difficulty walking , usually toe-walking and arching of foot

A

Hereditary Spastic Paraplegia

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109
Q

What is the pathologic feature of neuroserpinopathy

A

Large eosinophilic on PAS intraneuronal aggregates of neuroserpins

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110
Q

Amyotrophy and hypereflexia

A

ALS

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111
Q

What is the drug of choice for ALS

A

Rilozole

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112
Q

What lobes are affected in lobar atrophy

A

Frontal and temporal

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113
Q

Infrequent blinking is defined as

A

5-10/min

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114
Q

This condition where the patient is capable of brief remarkably effective movement

A

Kinesia Paradoxica

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115
Q

CT/MRI findings of CBD

A

asymmetrical cerebral/pontine atrophy

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116
Q

What is the side effect of Pergolide

A

Carduac valvular effect

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117
Q

Age of onset of dentatorubral degeneration

A

7-17 years old

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118
Q

Who are candidates for DBS

A

a. failure medical management

b. Dyskinesia to L-Dopa

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119
Q

What genes are involved in early AD

A

APP
PS1
PS2

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120
Q

SLC52A3 gene is involved in this condition

A

Progressive Bulbar Palsy of Childhood

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121
Q

What is the initial symptoms of Parkinson Disease

A

Tremor 70%

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122
Q

Aggregates of protein amyloid surrounded by degenerating nerve

A

Senile Plaques

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123
Q

What is the characteristic syndrome of Lewy Body Dementia

A

Progressive dementia with late onset parkinsonism

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124
Q

Levodopa in HD is ideally for

A

Juvenile form (Rigid form)

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125
Q

What determine the age of onset of Huntington disease

A

Number of CAG

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126
Q

Pathologic findings of Machado-Joseph-Azorean Diease

A

Degeneration of AHC and spinocerebellar tracts

Loss of AHC and neurons in pons and oculomotor nuclei

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127
Q

What is the chromosome involved in Benign inherited chorea

A

chr 14q

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128
Q

What determines the severity and time of onset of the disease in SMA

A

SMN2

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129
Q

characterized by distal limb weakness, fasciculation and cadaveric hands

A

ALS

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130
Q

What layer of entorhinal cortex is severely affected in AD

A

Layer 2

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131
Q

This shares the non-fluent aphasia in which meaning of words is retained

A

Logogenic Aphasia

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132
Q

Participate in synaptic plasticity

A

Tau

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133
Q

Death in HD occurs at

A

after 18-20 years

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134
Q

Amnesic components of dementia are due to neuronal loss of the following regions:

A
  1. CA1 and CA2
  2. Amygdala
  3. Dentate gyrus
  4. Temporal cortex
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135
Q

Mutation of this gene is involved in familial motor neuron

A

SOD2

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136
Q

How many of PD patient develop dementia

A

65%

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137
Q

What protein interacts with PS1 and PS2 that participates with proteosomal degradation

A

UBQLN1

138
Q

Repeated cerebral trauma leading to chronic traumatic encephalopathy

A

Dementia pugilistica

139
Q

What type of memory fails in AD

A

retentive type of memory

140
Q

The only muscle spared in SMA1

A

EOM

141
Q

AD and X-Linked type mutation is associated with

A

UBA1

142
Q

A.K.A Fazio Londe Syndrome

A

Progressive Bulbar Palsy of Childhood

143
Q

ALS with FTD is associated with mutation of this gene

A

TARDBP and FUS

144
Q

Age of onset of Chronic Childhood and Juvenile Proximal SMA

A

before 2 years old (3-18)

145
Q

Characterized by extreme rigidity , corticospinal signs with no dementia and ocular problems

A

Corticostriatospinal degeneration

146
Q

Complication of DBS

A
  1. ICH

2. Depression and suicides

147
Q

How many percent reduction of brain weight in AD

A

20%

148
Q

Gene that is involved in idiopathic PD

A

Park 3

149
Q

What drug causes irreversible parkinsonsism and has a selective destruction of cells in SN

A

Methyphenyltetrahydropyridine (MPTP)

150
Q

What gene is involved if chorea begins late life

A

HDL2

151
Q

Gene mutation of HSP with macular degeneration

A

SPG 11 and SPG 15

152
Q

Hyperphosphorylated form of microtubular protein appear in helical filaments

A

Neurofibrillary tangle

153
Q

In order for carbon dioxide retention this should be instituted

A

BIPAP

154
Q

What chromosome is affected in EA-Type 1

A

Chr. 12

155
Q

EMG findings of Motor neuron disease

A

Widespread fibrillation and fasciculation

Enlarged motor neurons

156
Q

This drug reduces the motor fluctuation of L-Dopa

A

Pramipexole

157
Q

Friedrich ataxia has a mutation of what gene

A

chr 9q13-2

158
Q

Cerebellar spongiform white matter changes and with intra and extranuclear inclusion

A

Fragile X

159
Q

This gene defect has unstable CAG trinucleotide repeat

A

Dentatorubropallidoluysian Atrophy

160
Q

What is the most common mutation of Retinitis Pigmentosa

A

RHO in AR

RPGR & RP2 in X-Linked

161
Q

Composed if glucose polygon and demonstrate in sural nerve biopsy

A

polyglucosan bodies

162
Q

Aside from Bromocriptine, give D2 agonist

A

Lisuride

163
Q

MRI findings in ALS

A

Atrophy of motor cortices and wallerian degeenratoon of motor tract

164
Q

Focal lesion that contribute to cognitive syndrome resulting from arteriosclerosis and multiple infarction

A

Vascular dementia

165
Q

Age of onset of ALS

A

45

166
Q

5 groups of Cochleovestibular atrophies

A 
progressive nerve deafness
low-frequency
mid-frequency
sex-linked
early onset neural deafness
167
Q

Loss of motor neuron in the following areas are characteristics of Progressive Bulbar Palsy of Childhood

A

Hypoglossal
Ambiguus
Facial
Trigeminal

168
Q

This condition is characterized by early difficulty naming people words followed by verbal perseveration

A

Semantic Dementia

169
Q

Heartblock and ventricular block are EEG findings of

A

Friedrich ataxia

170
Q

What is the early signs of striatal degeneration?

A

loss of dendrites of small neurons

171
Q

Multiple System Atrophy involves neuronal degeneration of the followiung area

A

SN
Striatum
ANS
Cerebellum

172
Q

Lack of vital endurance of the affected neurons

A

Abiotrophy

173
Q

How many percent of ALS has familial AD inheritance

A

40%

174
Q

SPECT and PET scan findings of AD

A

reduced activity in parietal association region and medial temporal lobes

175
Q

Symptomatology of Friedrich Ataxia

A

Hammertoes
Myopathy
DM
Ataxia

176
Q

What structure is spared in PSP

A

Cerebellar cortex

177
Q

Senataxin gene is associated with what variant of ALS

A

childhood onset (AR)

178
Q

The pathologic findings of Primary Lateral Sclerosis

A

Reduced Betz cells in frontal, premotor and cortex

179
Q

Bilaterally symmetrical slowly progressive macular degeneration

A

Stagardt Disease

180
Q

Retinal disease with hypogonadism and obesity

A

Alstrom disease

181
Q

This has a protective property or hiding the mental decline

A

cognitive reserve

182
Q

Treatment of PSP

A

Zolpidem

183
Q

Gene implicated in acanthocytosis

A

Chr. 9q

184
Q

This is an autosomal dominant disorder where there is gradual mental deterioration and stain reaction for amyloid

A

Familial Dementia with Spastic Paraparesis

185
Q

this gene can partially compensate for loss of SMN1

A

SMN2

186
Q

Cardinal signs of Dentatorubropallidoluysian Atrophy

A

Cerebellar ataxia

choreathetosis and dystonia

187
Q

Where does striatal degeneration initially occurs

A

medial part of caudate sparing nucleus accumbens

188
Q

Congenital pain asymbolia

A

Osuntokun Syndrome

189
Q

Funduscopic triad of Retinitis Pigmentosa

A
  1. Bone corpuscles
  2. Attenuated Vessels
  3. Pallor of the optic disc
190
Q

3 main group of progressive ataxia

A

a. Spinocerebellar ataxia
b. Pure form ataxia
c. Complicated cerebellar ataxia

191
Q

GAA trinucleotide repeat code for ___________ and involves in ________________

A

Frataxin

Friedrich ataxia

192
Q

What is the differential diagnosis if chorea occurs in early adult life?

A

Syndenham chorea
SLE with APAS
Cocaine use

193
Q

What is the mechanism of formation of neurofibrillary tangle and amyloid plaques in head trauma

A

Reparative process

194
Q

This condition is characterized by progressive ataxia, EPS, bulbar signs, and saccade impairment

A

Machado-Joseph-Azorean Disease (SCA)

195
Q

What is a treatable cause of Friedrich Ataxia

A

Inherited deficiency of Vit E

196
Q

What lobe is affected if there is a problem in executive function

A

Frontal lobe

197
Q

EMG finding in PD

A

(-) burst activity

198
Q

This condition is characterize by typical form of parkinsonian and episodic dementia

A

Lewy Body Dementia

199
Q

Mechanism of action of Entacapone

A

COMT inhibitor where it prolongs the half life of L-dopa by preventing its metabolism

200
Q

Most common mutation in AR Hereditary Spastic Paraplegia

A

SPG7

201
Q

What is the cardinal feature of dystonia musculurm deformans

A

simultaneous contraction of both agonist and antagonist at a joint

202
Q

What degenerates in Friedrich Ataxia that causes ataxia

A

Superior vermis
Dentatorubral pathway
Spinocerebellar pathway

203
Q

Eye impairment in PSP

A 
Impaired voluntary saccades
Hypometric saccades
Delayed pursuit
Cogwheel fixation 
Small pupils 
Loss of Bells Phenomenon
204
Q

What correlates with severity of dementia

A

NFT

205
Q

CT and MRI findings in AD

A

enlarged lateral and 3rd ventricle

medial temporal lobe atrophy

206
Q

Non-motor parkinson Symptoms

A 
paresthesia
Excess salivation
Excessive sweating 
Autonomic disturbance 
Orthostatic hypotension
207
Q

Hearing loss and nephritis

A

Lemieux Neemeh Syndrome

208
Q

Usual age of onset of Huntington Disease

A

4th-5th decade

209
Q

SMN2 generates what type of SMN

A

truncated and partial functional SMN

210
Q

Optic atrophy with muscle wasting

A

Sylvester disease

211
Q

This condition is characterized by difficulty in balance, abrupt falling, ocular disturbance and slurred speech

A

Progressive Supranuclear Palsy

212
Q

TDP-43 is associated with what disorders (2)

A

Frontotemporal lobe dementia

Motor neuron disease

213
Q

Age of onset of Torsion Dystonia

A

6-14 years old

214
Q

2 types of paroxysmal Ataxia

A

a. Episodic ataxia Type 2

b. Episodic ataxia Type 1

215
Q

What is the mechanism of action of Memantine

A

NMDA glutaminergic antagonist

216
Q

Clinical syndrome of guamanian Parkinson Dementia ALS

A

progressive dementia parkinsonism with combined UMNL and LMNL

217
Q

What differentiate EA-Type 1 from EA-Type 2

A

absence of vertigo

218
Q

Cortices that undergo atrophy in AD

A

frontal, temporal and parietal

219
Q

Extensive forward flexion of the spine and correspondingly severe stooping

A

Camptocornia

220
Q

This involve in cellular protein sorting and trafficking

A

Chorein

221
Q

Donepezil improve _____ points in 70 points AD Assessment Scale

A

2-3

222
Q

HSP + Dementia

A

AR syndrome of Sjogren-Larsson

223
Q

Pure form of visuospatial disorientation

A

Posterior cortical atrophy

224
Q

How long does Donepezil takes its effect

A

6-12 months

225
Q

Mutation of TARDBP and FUS is how many percent of Familial and sporadic

A

5% and 2%

226
Q

static tremor with athetosis of limbs

A

HSP + EPS

227
Q

Describe the memory loss in AD

A

recent memory is lost

remote memory is preserve

228
Q

This involves proximal limbs and progresses to shoulder with fasciculation and decrease DTR

A

Chronic Childhood and Juvenile Proximal SMA

229
Q

Characterized by stridor, facial diplegia and paralysis oflingual, pharyngeal and EOM

A

Progressive Bulbar Palsy of Childhood

230
Q

Gradual development of chorea in middle life with associated facial and orofacial feature

A

Mutation of KY gene

231
Q

Gene involved in Strumpell-Lorraine Disease

A

SAX1

232
Q

Parkinson disease age of onset

A

45-70 peaks at 60s

233
Q

HSP + optic atrophy

A

Behr Syndrome

234
Q

Spastic weakness, hypereflexia with LMNL

A

Progressive Lateral sclerosis

235
Q

The rapid deterioration of intellectual function is characterized by:

A

Subcortical dementia

236
Q

Defined Lobar atrophy

A

selective atrophy involving both white and gray matter with gliosis of the superficial layers of cortex usually asymmetrical and has different histopathological changes

237
Q

Pathologic findings showed hypertrophic polyneuropathy

A

HSP + polyneuropathy

238
Q

Why give levodopa in lowest dose

A

Decrease receptivity to dopa of striatal target neurons becomes excessive

239
Q

Pathologic abnormalities in Dystonia Musculurm Deformans

A

perinuclear lesion in VPAH and elecation of B-hydroxylase(in AD)

240
Q

Twitching of head to one side while walking

A

torticollis

241
Q

What lipid is decreased in acanthocytosis

A

Stearic acid

242
Q

Incidence of ALS

A

0.5-1.76/100,000

243
Q

Triad of Huntington Chorea

A

Dominant inheritance
Choreoathetosis
Dementia

244
Q

What is the ratio of conversion of L-Dopa to peripheral tissue

A

1:10 or 1:4

245
Q

What is the variant of hemiplegia in ALS

A

Mills Variant

246
Q

How many percent of ALS is associated with frontotemporal lobe dementia

A

5%

247
Q

What lobe is assessed in Weschler Adult Intelligence Scale

A

Temporoparietal cortices

248
Q

What is the molecular defect in Huntington Disease

A

Expansion of polyglutamine region of huntingtin induce glutamate-mediated excitotoxicity

249
Q

General Pathologic Feature of Neurodegenerative Diseases (4)

A
  1. Limited to motor neuron of cortex, BS and SC
  2. Protein Aggregation
  3. Triplication of certain gene
  4. Contiguous spread of CHON aggregation
250
Q

Intrathecal baclofen is used in this condition

A

Torsion Dystonia

251
Q

Drugs use to reduced dystonia in PSP

A

Benztropine or Trihexylphenidyl

252
Q

This is failure to stop clapping after they are ask to do only 3

A

applause sign

253
Q

Most effective agent for treatment of PD

A

L-Dopa

254
Q

White matter changes in cerebral hemisphere with retinal vasculopathy

A

Susac Syndrome

255
Q

Gene that is associated with Dystonia parkinsonism muscle dystrophy

A

Park 14

256
Q

What is a serpines

A

protease inhibitors

257
Q

Optic nerve exam of Leber Hereditary Optic atrophy

A

Degeneration from papillae to LGB

258
Q

This is characterized by arrhythmic, involuntary rhythm repetitive twitching that respond to valproic acid and clonazepam

A

Hereditary Polymyoclonus

259
Q

Pathologic abnormality in Huntington disease

A

Atrophy of head of caudate alters the configuration of the anterior horn where the inferolateral tend do not show bulge of head

260
Q

Chorein is located in what gene

A

Chr. 9q

261
Q

Diagnostic Criteria of Lewy Body (4)

A
  1. Parkinsonian Syndrome
  2. Fluctuation in behavior and cognition
  3. Reversal hallucination
  4. Neuroleptic sensitivity (REM sleep)
262
Q

What is the earliest pathological changes in PD

A

Earliest change in glossopharyngeal and anterior olfactory nucleus

263
Q

Differential Diagnosis of SMA1

A

All disease that presents with floppy infants
Congenital myopathies
Neonatal MG
Prader Willi

264
Q

Presence of cognitive difficulties in one or all sphere that are not severe enough to interfere with daily living

A

Mild cognitive impairment

265
Q

How many months do Rilozole add for ALS

A

3 months

266
Q

Age of onset (alzheimer’s disease)

A

60 years and older

267
Q

Mechanism of action of Ropinirole

A

Non-ergot derivatives that causes stimulation on D2 receptor

268
Q

Extrapyramidal signs, orthostatic hypotension and ataxia

A

Shy Dagger Syndrome

269
Q

EEG findings of AD

A

mild diffuse slowing

270
Q

The average years of onset of acanthocytosis

A

32 years old

271
Q

This is different form of Huntington Disease where onset is before 5 years old without metal deterioration

A

Benign inherited chorea

272
Q

2nd most common AR death

A

SMA1

273
Q

SOD1 mutation is a characteristic feature of this conditon

A

Progressive muscular atrophy

274
Q

Behavioral variant with concomitant motor neuron manifestation is:

A

Western pacific syndrome

275
Q

This condition is characterized by loos of ability to understand and use visual information

A

Posterior cortical atrophy

276
Q

This condition is characterized by spasticity, chorea, dementia and sensory polyneuropathy

A

Adult Polyglucosan Body Disease

277
Q

MRI findings of Multiple System Atrophy

A

Hot Cross Bun

Reflects to atrophy of pons at pontocerebellar fiber in T2 signal intensity

278
Q

What is the mechanism of action of Amantadine

A

Antagonist of NMDA or release of stored NMDA; reduces L-dopa induced dyskinesia

279
Q

Placement of Brain Stimulation in Dystonia Musculurum Deformans

A

VLN and pallidum ansa ventricularis

280
Q

Where do NFT and neuritic plaques found?

A

association cortices

281
Q

This condition is characterized by extensive loss of neurons in the SNPc and pallidal atrophy

A

Multiple System Atrophy

282
Q

Tun-Bridge Paley Syndrome

A

Optic atrophy with juvenile DM

283
Q

Genes that has AD inheritnce

A

Park 1/4, Park 3, Park 8 and NR4A2

284
Q

What precedes the formation of better and well-defined NFT and plaques

A

AB42

285
Q

This is a product of inadequate function of gene that is deposited in neuron, and plays a role in severity of expression of AD

A

TDP-43

286
Q

This result to abnormal composition of covalently bound FA in RBC

A

Acanthocytosis

287
Q

3 Types of Primary Progressive Aphasia

A
  1. Progressive non-fluent aphasia
  2. Semantic Dementia
  3. Logogenic Aphasia
288
Q

Presence of this paraprotein is associated with AB against ___________ in progressive muscular atrophy

A

GM1 ganglioside

289
Q

This condition is characterized by proximal extrapyramidal rigidity combined with signs of corticospinal disease

A

Corticobasal Degeneration

290
Q

2 characteristic of degenerative disease

A
  1. affects specific part or functional system of NS

2. They begin insidiously, after a period of normal function and gradually progressive in nature

291
Q

Early histologic findings of ALS

A

Swelling of the proximal axon

292
Q

hearing loss, bone cyst osteoporosis, skin atrophy and eye defect

A

Flynn Aird Syndrome

293
Q

Grading of Disease (Huntington)

A
  1. Early - no striatal lesion; clinical manifestation are based on biochemical or infrastructural changes
  2. Moderately advance
  3. Far Advance stage - (+) striatal degeneration
294
Q

DIstal muscular atrophy with prominent bulbar signs and elevated CK levels

A

Kennedy Syndrome

295
Q

What is the characteristic Gait of PSP

A

retropulsion “toppling phenomenon”

296
Q

Where is the lesion if there is visuospatial disorientation

A

parietooccipital impairment

297
Q

In Leber Hereditary Atrophy, the 2nd eye will be blind in:

A

within a year

298
Q

Dystonia that is responsive to L-DOpa

A

Segawa Syndrome

299
Q

What is the only affected in late pathobiology of PD

A

SNPc

300
Q

Associated with mutation of gene SPG2

A

HSP + distal muscle wasting

301
Q

What are the inclusion bodies involved in MSA

A

Glial cytoplasmic inclusion

302
Q

Flourrescein angiography of Leber Hereditary Optic Atrophy

A

Shunting in the abnormal vascular bed with reduced filling of capillaries of the papillomacular bundle

303
Q

What regions of the brain has accelerated atrophy in AD (2)

A
  1. Hippocampus

2. Temporal lobes

304
Q

What is the inclusion body of Guamanian PD ALS

A

NFT

305
Q

What is the function of SMN gene

A

participate in forming protein-RNA complex that are essential for gene splicing

306
Q

Ergot derivative drug causes direct stimulation on D2 receptor

A

Bromocriptine

307
Q

What is the PET-SCAN findings in Lewy Body

A

Reduced activity of posterior parietal region

308
Q

What type of neuron is affected in AD

A

large pyramidal neurons

309
Q

AD inheritence genes involved in AD

A

APP PS1 and PS2

310
Q

The dominant symptoms relate to weakness and laxity of muscle innervated by motor nuclei of lower brainstem

A

Progressive Bulbar Palsy

311
Q

What is the result of DBS

A

enhance effect of L-DOPa and reduction of drug induced dyskinesia

312
Q

What ameliorates cerebellar lesions in Friedrich ataxia

A

5-hydroxytryptophan

313
Q

What is the associated gene involved in hereditary polymyoclonus

A

SGCE

314
Q

Tapetoretinal degeneration a.k.a

A

Waardenburg

315
Q

This pathologic feature is compatible with Holmes Ataxua

A

vermian atrophy and adjacent cerebellar area

316
Q

Patient with ALS will die in ______ or ____% in 6 years

A

3 years / 90%

317
Q

What is diagnostic in the presence of clinical circumstances in AD

A

Hippocampal atrophy

318
Q

Where is the placement of DBS if you want to improve dystonia

A

Pallidal stimulation

319
Q

What channel is affected in Chr. 12 in EA-Type 1

A

K Channel

320
Q

Nyssen van Bogaert Syndrome

A

Optic atrophy with quadriparesis and developmental delay

321
Q

CSF findings in AD

A

NORMAL

322
Q

hand tremor, demenyia and parksinson syndrome is the cardinal symptoms

A

Fragile X

323
Q

What is the rule if there is mutation of DYT1 gene

A

manifest early in life and begins in one limb

324
Q

What is the early abnormal movements in Huntington Disease

A

Difficulty performing hand movements

325
Q

Chromosome involved in Dopa Responsive Dystonia

A

Chr. 14q

326
Q

What is the trinucleotide repeats involved in Fragile X

A

50-200 CGG

327
Q

This rigidity is elicited by having the opposite llimb do motor task requiring concentration

A

Froments sign

328
Q

This condition is characterized by adult onset dementia with chorea associated with elevated propionic acid

A

Dentatorubropallidoluysian atrophy

329
Q

MR, narrowing of retinal vessel and white vascularized retinal mass

A

Small disease

330
Q

AD hearing loss and ataxia

A
  1. Telfer-Sugar Jaeger Syndrome -

2. Rosenberg Bergstrom Syndrome - hyperuricemia

331
Q

What is the pathologic findings of corticobasal degeneration

A

neuronal achromasia - balloon and chromatolytic neurons with eccentric nuclei

332
Q

Patient with progressive bulbar palsy dies in

A

Aspiration Pneumonia

333
Q

MRI finding of Machado-Joseph-Azorean Disease

A

Reduced width of the superior and middle cerebellar peduncle

334
Q

Nerve conduction study in ALS

A

usually normal, if decreased suggestive of entrapment neuropathy

335
Q

The core feature of Parkinson Disease

A

Postural Instability

336
Q

What results to cleavage of B and Y of APP

A

40 amino acid product

337
Q

Retinal disease with polyneuropathy

A

Refsum disease

338
Q

Gene in Huntington Disease is located at ____ and involves triplication of ______

A

chr. 4

CAG

339
Q

This is an adult onset dementia with fulminant evolution of encephalopathy with seizure

A

Neurosepinopathy

340
Q

This is a pure lower motor neuron disease occurs in younger patient with wasting of intrinsic muscle of hand with diminished DTR

A

Progressive muscular atrophy

341
Q

3 inclusion bodies in AD

A
  1. NFT
  2. Neuritic plaques
  3. Granulovascular Degeneration

Neurodegenerative disorder (1 decks)

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