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Adams 10th Ed > Chap 39 - Degenerative D/o > Flashcards

Chap 39 - Degenerative D/o Flashcards

1
Q

Two outstanding characteristics of degenerative disease.

A
  1. affect specific parts or functional system of the nervous system
  2. begin insidiously and then gradually progressive course
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2
Q

Clinical Classification for Degenerative Dz

A
  1. Syndrome of progressive dementia w/o other neurologic symptoms
  2. Syndrome of posture and movement
  3. Syndrome of progressive ataxia
  4. Syndrome of slow muscular weakness and atrophy
  5. Sensory and sensorimotor disorders
  6. Syndrome of progressive blindness
  7. Syndrome of degenerative sensorineural hearing loss
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3
Q

Age onset in majority of AD

A

60’s or Older, but may rarely occur in late fifties or younger

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4
Q

Familial occurrence AD characteristics:

A
  • 1 % in dominant inheritance pattern w/ high chance of younger onset
  • Patients w/ less than 70 y/o likely to have relatives w/ similar illness
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5
Q

Major symptom of AD

A

Gradual development of forgetfulness

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6
Q

T/F. Remote memories are always preserved and recent memories are loss (Ribot’s law)

A

F. NOT ALWAYS TRUE . In ADs all aspects of memories are affected

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7
Q

T/F. Social graces are first to affect in AD.

A

F. Memory dysfunction is the most common early manifestion, social graces usually occur in the latter part of illness

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8
Q

Duration of AD in terms of :

  • Illness
  • Spinal fluid biomarkers & imaging prior to clinical manifestation
A

Illness: 5 year or more

Biomarkers & Imaging: if present 15 year or latter before they clinically manifest

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9
Q

How many percent convulsion occurs in AD?

A

5% of infrequent seizures

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10
Q

MCI syndrome is defined:

A

w/ cognitive impairment in one or more domain but no interference w/ ADLs

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11
Q

5 opening/ early manifestation of AD

A
  • AMNESIA: most common and prominent; short and long-term memories affected while immediate memory not.
  • DYSNOMIA: name animal farms etc.
  • VISUOSPATIAL DISORIENTATION: ascociated w/ posterior cortical atrophy
  • PARANOIA & PERSONALITY CHANGE
  • EXECUTIVE DYSFUNCTION: coordinating/ planning task or following complex instructions

*** if any deficits remain stable over a long period of time think of other diagnosis

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12
Q

Most disabling aspect of AD but not specific to it

A

Executive dysfunction

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13
Q

NINCDS & ARDA criteria of AD (85% correct diagnosis of AD)

A
  1. dementia by clinical exam, MMSE, or similar mental status exam
  2. >40 y/o
  3. 2 or more deficits in cognition & worsening of memory
  4. absence of disturbed consciousness
  5. exclusion of other disease
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14
Q

Gross changes of brain in AD

A
  • Diffuse atrophy, w/ weight reduction by 20%
  • Sulci widened
  • Extreme atrophy of hippocampus (diagnostic in proper clinical circumstances)
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15
Q

Earliest most pronounced microscopic changes in AD

A

Cell loss in layer II of entorhinal cortex

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16
Q

Predominantly affected cell loss in the cerebral cortex among AD

A

Large pyramidal neurons

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17
Q

3 distinctive microscopic changes in AD

A
  1. NEUROFIBRILLARY TANGLES composed of tau proteins in helical filaments
  2. AMYLOID surrounded by neurotic plaques ( spherical deposits in PAS stain) & congophilic angiopathy
  3. GRANULOVACUOLAR DEGENERATION: evident in pyramidal layer of hippocampus
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18
Q

Microscopic pathologic changes correlate best w/ severity of dementia

A

Neurofibrillary tangles & neuronal loss. NOT amyloid plaques

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19
Q

Areas of brain disproportionately affected in AD

A
  • Hippocampus (CA1 & CA2 zones)
  • Entorhinal cortex
  • Subiculum
  • Amygdala
  • Parietal lobe
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20
Q

TAU-pathies in neurodegenerative disorders

A
  • Alzheimer’s Disease (AD)
  • Frontotemporal Dementia (FTD)
  • Progressive supranuclear palsy (PSP)
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21
Q

Cytoskeletal protein promotes assembly of microtubules, stabilize structure or promotes synaptic plasticity

A

Tau protein: compose of beta-2 transferrin

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22
Q

Ratio critical to neuronal toxicity of amyloid in AD

A

AB42: AB40 ratio; AB42 is toxic in several models of AD

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23
Q

AD is related to APP gene found in what chromosome?

A

Chrom 21 (hence Down syndrome may have AD)

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24
Q

Major portion of cholinergic terminals originate which is affected in AD

A

Nucleus basalis of Meynert / forebrain nuclei

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25
Q

The genetic marker for AD susceptibility (3x risk of sporadic AD)

A

Apo-E4; also correlates w/ increased deposition of beta-amyloid

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26
Q

The presence of Apo-E4 accelerates appearance of AD by how many years?

A

5 years

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27
Q

Areas in the brain showing decrease blood flow in SPECT and metabolism in PET

A

Parietal association cortex, medial temporal lobe

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28
Q

Possible biologic marker of AD in CSF

A

Low AB42:tau ratio

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29
Q

Genetic & modulating factors associated w/ AD

A

Table 39-1 ADAMS

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30
Q

How large is the effect of dementia drugs is?

A

Modest. Ability to sustain an independent life but medication should be taken 6-12 months

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31
Q

NMDA antagonist used for dementia and therapeutic doses, indication and SE

A

Memantine

D: 20mg/d

I: for late stage AD as adjunct w/ cholinergic drugs

SE: hallucinations & agitation

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32
Q

Monoclonal antibody at soluble forms of amyloid for tx of AD but failed w/ early AD

A

Solanezumab

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33
Q

T/F. Amyloid plaques & tangled deposition are far more common in PD (20-30%) compared to age-matched controls

A

TRUE (p. 1073)

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34
Q

Pathologic changes in Lobar Atrophies

A
  • Atrophy is asymmetrical
  • Gyri paper thin / narrowing of cortical ribbon
  • grayish and reduced vol of underlying white matter (unifying element in this group)
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35
Q

FTD / Pick’s disease has unique deposition of:

A

Pick bodies (argyrophilic intracytoplasmic inclusion)

Pick cells (diffuse staining ballooned neurons)

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36
Q

2 Variants of FTLD

A
  • Behavioral variant
  • Language variant
    • Semantic Dementia
    • Progressive non-fluent aphasia
    • Logophenic
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37
Q

Clinical manifestation of Behavioral Variant FTLD:

A
  • Personality changes
  • Impaired insight
  • Depression (most common initial diagnosis)
  • Compulsive behavior
  • Hyperphagia / hyperorality (late stage)
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38
Q

Clinical manifestation of Progressive Nonfluent Aphasia FTLD

A
  • Word finding but language structure is intact
  • Dysarthria & apraxia then becoming mute (late)
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39
Q

Clinical manifestation of Semantic Dementia in FTLD

A

Dysnomia

Verbal perseveration but fluency retained

Aware they are having trouble w/ words

Prosopagnosia

Memory of day-to-day is preserved

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40
Q

Progressive loss of ability to understand and use visual information

May have fragments of Balint (simultagnosia, oculomotor apraxia & optic ataxia) & Gertsmann syndrome

A

Posterior Cortical Atrophy

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41
Q

Most frequent pathologic diagnosis next to AD

A

Lewy-body dementia (LBD)

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42
Q

Main components of Lewy-body Dementia

A

Ubiquitin & alpha-Synuclein

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43
Q

Features of LBD

A
  • Parkinsonian (usually symmetric)
  • Flactuating nocturnal delirium or dementia
  • REM sleep behavior d/o

*** 2 out of 3 is diagnostic of LBD

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44
Q

T/F. Parkinsonian feats of LBD respond favorably w/ L-dopa

A

TRUE. But for a limited time it may cause delirium or hallucinations

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45
Q

Drug use in LBD reducing delusion, hallucinations, anxiety

A

Rivastigmine (anticholinesterase inhibitor)

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46
Q

Connected w/ late life dementia preceded by behavior disturbances deposited w/ inclusion not related to LBD & AD

A

Argyrophilic Grain Disease

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47
Q

Adult onset dementia w/ fulminant evolution suggestive of encephalopathy & seizure

A

Neurserpinopathy, associated w/ neuroseprin (PAS + intraneuronal inclusion, large eosinophilic)

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48
Q

Triad of Huntington’s disease

A
  • Dominant inheritance
  • Choreoathetosis
  • Dementia
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49
Q

Onset of Huntington’s Dz

A
  • 4th to 5th decade of life but 3-5% may occur before 15 y/o
  • Progression is slower in older patients
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50
Q

Genetic abnormality in Huntington’s disease

A

Excessive long CAG repeats (more than 34) in chromosome 4

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51
Q

T/F. Length of repeat of CAG in Huntington’s is directly proportional w/ age of onset and severity

A

FALSE. Inversely proportional to age of onset BUT TRUE for severity

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52
Q

2 gross pathologic abnormality in Huntington’s Disease

A
  • Head of caudate & putaminal atrophy
  • Gyral atrophy in frontal & temporal region
  • Lateral ventricles enlarge (secondary)
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53
Q

T/F. Larger neurons are affected before smaller neurons in Huntington’s disease

A

FALSE. Small spiny neurons affected first

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54
Q

Number of CAG repeats that confirms diagnosis & give expected time of onset in Huntingtons

A

39 CAG repeats

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55
Q

Drug effective partially in suppressing movement d/o & somehow alleviate behavioral & emotional abnormalities in Huntingtons

A

Haloperidol (2-10mg/day): dopamine antagonist; treat only if movement is disabling

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56
Q

Drugs that suppress chorea to some degree but SE outweigh for Huntingtons

A

Reserpine

Clozapine

Tetrabenzine

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57
Q

Average duration of illness from onset to death in Huntingtons

A

15-20 years

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58
Q

Disease w/ the ff characteristics:

  1. adolescent of generalized involuntary movement
  2. mild to mod mental deterioration
  3. chronic axonal neuropathy (DTRS dec or absent)
  4. thorny/ spiky erythrocytes
A

Neuroacanthocytosis

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59
Q

X-linked acanthocytosis, chorea & myopathy (KX protein)

A

McLeod disease

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60
Q

An inherent defect in RBC lipid membrane, associated w/ chromosome 9q and protein chorein.

Manifest as dystonia, tics, vocalizations, cognitive impairment & psychiatric feats at middle age

A

Bassen –Kornzweig disease

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61
Q

Progressive parkinsonism & dementia w/ combined LMN & UMN signs among men 50-60 y/o from Pacific Islands

A

Guamanian Parkinson-Dementia-ALS complex

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62
Q

Progressive spasticity, chorea, dementia and sensory polyneuropathy.

Presence of basophilic PAS+ in axons & astrocytes

A

Adult Polyglucosan Body Disease

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63
Q

Epidemiology of PD:

Peak onset of PD & interval

Sex

Demographics

A
  • 6th decade of life, 45-70 y/o
  • Predominantly male
  • Across countries, races, socioeconomic class
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64
Q

Core features of PD

A

Postural instability

Bradykinesia

Rigidity

Resting tremors

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65
Q

4 most common initial symptom of PD from first to 4th

A
  • Tremor (70%) – most common
  • Gait disturbance
  • Stiffness
  • Slowness
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66
Q

Least degree of tremor felt during passive movement of rigid part

A

Negro sign

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67
Q

Parkinson resting tremor described as:

A

3-5 Hz tremor

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68
Q

Activation procedure eliciting rigidity by engaging the opposite limb w/ a motor task

A

Froment sign

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69
Q

T/F. The bradykinesia is derived from the rigidity of the illness

A

FALSE. It is independent from each other

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70
Q

Resistant to treatment in PD that sometimes are early finding

A

Extension or clawing of toes, jaw, clenching, & fragments of dystonia

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71
Q

A complication of PD where there is extreme forward flexion of spine, & severe stooping (axial dystonia), NOT RESPONSIVE TO L-DOPA

A

Camptocormia

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72
Q

Most advance PD, capable of remarkably brief effective movement

A

Kinesis Paradoxica

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73
Q

Inability to inhibit blinking upon tapping glabella or bridge of nose in PD

A

Myerson sign

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74
Q

Nonmotor Parkinsonian symptoms

A
  • Pain / discomfort in calves abdomen
  • Drooling
  • Autonomic
  • Dementia
  • Depression
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75
Q

Estimate incidence of dementia in PD

A

10-15% increasing w/ age & duration of illness

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76
Q

Mean period of onset of PD to chairbound state

A

7.5 years

77
Q

Mean duration where idiopathic PD acquires dyskinesia in L-dopa

A

3-5 years

78
Q

Lower-half parkinsonism is associated with what?

A

Vascular parkinsonism, not responsive to L-dopa

79
Q

Tremors of essential tremors differs from PD:

A

Essential tremors: 4-8 Hz fine tremors occurring volitional, attenuated by alcohol & propranolol

PD tremors: 3-5 Hz,

80
Q

Most constant & pertinent finding in idiopathic PD & postencephalitic PD

A

Loss of pigmented cells in substantia nigra & other pigmented nuclei ( locus ceruleus, DMN of vagus)

81
Q

IDENTIFY THE INCLUSION BODY

A

Lewy Body, eosinophilic cytoplasmic inclusion w/ faint halo

82
Q

T/F. All inherited and postecephalitic PD have Lewy Body

A

FALSE

83
Q

Rate limiting enzyme for synthesis of dopamine

A

Tyrosine-hyroxylase

84
Q

The absolute reduction of pigmented cells in PD compared to controls

A

66%

85
Q

According to Braak’s, the earliest changes in brain among PD occurs in

A

Dorsal glossopharyngeal-vagal & anterior olfactory nuclei, later only in SN

86
Q

The neurotoxin to cause irreversible signs of parkinsonism and selective destruction of SN:

Its analogue drug is:

A
  • MPTP
  • Meperidine
87
Q

Familial occurrence in PD suggest by how many?

A

15%

88
Q

Main components of Lewy body seen in inherited & sporadic PD

A

Alpha-synuclein & ubiquitin

89
Q

Lewy body are not found in what gene mutation in PD

A

Parkin gene: (PARK2)

90
Q

Accounts to 50% of early onset inherited PD, 20% of sporadic early-onset

A

PARK2 (Parkin)

91
Q

Ubiquitin protein ligase that participates in removal of unnecessary proteins from cells in the proteosomal system

A

Parkin

92
Q

PD gene mutation related to Gaucher disease

A

LRRRK2 (leucine-rich repeat kinase 2)

93
Q

PD gene: normal function is to specify identity of dopaminergic neurons; confers to susceptibility to PD

A

NURR1 (NR4A)

94
Q

PD gene: normal function essential for normal neuronal response to oxidative stress

A

DJ-1 (Park 7)

95
Q

PD gene: mitochondrial gene & AR

A

PINK1 (Park 6)

96
Q

The most effective agent for treatment of PD

A

L-dopa

97
Q

Nigral neurons become inadequate & striatal neuron become excessively sensitive; Explanation of dyskinesia in L-dopa

A

Denervation hypersensitivity

98
Q

Increases bioavailability, prevents peripheral decarboxylation in peripheral tissue & reduces peripheral SE

A

C-dopa or Bensarizide

99
Q

Extends plasma half-life & duration of L-dopa by preventing breakdown

A

COMT inhibitors (entacapone)

100
Q

Offer longer effect & reduce dyskinesia in advance stages.

Facilitate morning rigidity & tremor when given at late evening

A

Long-acting CL Dopa (BUT 70% has inconsistent absorption)

101
Q

Direct dopaminergic effect to striatal neurons , less potent than L-dopa but fewer dykinetic complications

A

Dopamine agonist

102
Q

Ergot derivative dopamine agonist acting on D2 receptors

A

Bromocriptine and Lisuride

103
Q

Non-ergot derivative dopamine agonist for PD

A

Ropinorole & Pramipexole

104
Q

Dopamine agonist no longer used due to risk of cardiac valvular damage at high dose

A

Pergolide & Cabergoline

105
Q

Allows gradual reduction of L-dopa dose by 50% & reducing motor fluctuations

A

Dopamine agonist

106
Q

Transdermal dopamine agonist, with doubling of “on’ time & w/o dyskinesia

A

Rotigotine

107
Q

Drug used for predominantly tremors among PD.

A

Anti-cholinergics (Trihexylphenidyl & Benztropine)

108
Q

Notorius SE of use anticholinergics among elderly

A

Mental slowing, confusion, hallucinations

109
Q

Antiviral agent w/ mild to moderate benefit for tremor, hypokinesia, postural symptoms. Reduce L-dopa induced dyskinesia

A

Amantidine (100mg BID)

110
Q

Neuroprotective agent by reducing oxidative stress in dopaminergic neurons

A

MAO-B inhibitor (Rasagiline)

111
Q

Antioxidant offer marginal advantage on progression by 6-18 months

A

CoQ10

112
Q

On-off phenomenon occurs in PD by

A

75 % in 5 yrs

113
Q

When involuntary movement occurs w/ small dose of L-dopa it can be addressed by

A
  • Adding dopamine agonist or amantadine
  • Use of oral suspension (w/ ascorbic acid)
114
Q

Onset of psychiatric symptoms occur in PD by

A

15-25% especially in advanced stage & elderly

115
Q

Treatment options for psychosis in PD using

A

Atypical neuroleptics: Olanzapine, Clozapine, Risperidone, QuetiapineTreatment options for psychosis in PD using

116
Q

Atypical anti-psychotic drug w/ additional benefit to suppress dyskinesia in advance PD, w/ limitation due to hematologic risk

A

Clozapine

117
Q

Targets of DBS in PD

A

STN & GPi

118
Q

Benefits of DBS in PD:

A
  • Enhanced responsiveness of L-dopa & reduction of dyskinesia
  • Improve in all features of PD
119
Q

Ideal candidate of DBS for PD

A

Failure to relieve symptoms w/ meds & difficult to treat dyskinesia

120
Q

When dystonia present in PD, target in DBS show more benefit

A

GPi

121
Q

Hypotensive episodes in PD can be managed w/

A

Fludrocortisone or Midodrine

122
Q

T/F. There were neuronal loss in zona compacta in SN but no Lewy body or neurofibrillary tangles present & secondary pallidal atrophy

A

TRUE (p1095)

123
Q

Orthostatic hypotension occurs and proven to be cell loss of:

A

Intermediolateral horn cells & pigment nuclei of brainstem

124
Q

Features that may distinguish it MSA from PD

A
  • Relative symmetryof sign & rapid
  • Lack of response to L-dopa (striatal loss of dopamine receptors)
  • Minimal amount of tremor
  • Early signs of autonomic dysfunction

*** Anterocollis

125
Q

Seen in MRI among MSA-C reflecting atrophy of pontocerebellar fibers in T2 sequence

A

Hot Cross Bun Sign

126
Q

Mutation of gene related to MSA

A

COQ2 gene

127
Q

Cytoplasmic aggregates seen in MSA not clear if histopathologic hallmark of it

A

Glial cytoplasmic inclusion

128
Q

Typical onset of age in PSP

A

6th decade

129
Q

Most common early complaint of PSP

A

Unsteadiness of gait & falling w/o LOC

130
Q

T/F. A proportion of PSP patients demonstrate eye signs w/in a year

A

FALSE

131
Q

Distinguishing PSP from PD:

A
  • Tonic grimace
  • Lack of tremor
  • Erect posture
  • Prominent oculomotor abnormalities
132
Q

PE in PSP, where patient fails to stop clapping even if asked to clap 3 times only

A

Applause sign

133
Q

MRI findings found in PSP:

A

Mouse ears: atrophy of dorsal mesencephalon

Hummingbird sign

134
Q

Neurofibrillary tangles associated w/ PSP

A

Tau

135
Q

Genetic implication for PSP

A

Chromosome 17p

136
Q

Drugs can be used for PSP

A

L-dopa: slight unsustain benefit

Zolpidem: ameloriate akinesia & rigidity

Anticholinergics: dystonia

Botulinum Toxin

137
Q

Elderly w/ progressive asymmetrical extrapyramidal rigidity, w/ signs of corticospinal disease, dementia in late stage

A

Corticobasal Degeneration (CBD)

138
Q

Early features of CBD

A

Asymmetrical clumsiness of limbs, rigidity & tremor

“Alien hand”

139
Q

Essential feature of CBD in pathologic exam

A

Neuronal achromasia in posterior frontal & parietal neurons

*** Asymmetry of degeneration too

140
Q

Most important abnormal gene in Dystonia Musculorum Deformas

A

DYT1 (TOR1A) producing Torsin A

141
Q

T/F. In general, more restricted types of Torsion dystonia have later onset and milder, slowly progressive & involves axial & distal region alone

A

TRUE

142
Q

General Rule for inherited vs sporadic torsion dystonia

A
  • Inherited (DYT1): early onset, begins one limb then genarlized
  • Sporadic: common dystonia, adult onset, craniocervical or another region, does NOT generalized
143
Q

Cardinal feature of severe dystonia in Torsion dystonia

A

Simultaneous contractions of antagonist & agonist muscles

144
Q

Drugs used in torsion dystonia early in disease

A

L-dopa

Bromocriptine

CBZ

DZP

Anticholinergic

Intrathecal baclofen

Clonazepam; segmental myoclonus

145
Q

Dystonia responsive in L-dopa w/ parkinsonism features.

AD inheritance, w/ affectation in what chromosome_____, for protein_____ implicated for synthesis of tetrahydrobiopterin, cofactor of tyrosine hydroxlase

A
  • Segawa Syndrome / Heriditary Dystonia Parkinsonism
  • Chromosome 19q (GCH1 gene)
  • GTP cyclohydroxylase-1
146
Q

Onset of Segawa syndrome

A

Between 4-8 years old

147
Q

3 groups for progressive cerebellar syndromes

A
  • Spinocerebellar ataxia
  • Pure Cerebellar ataxia
  • Complicated cerebellar ataxia
148
Q

General rule for onset of chronic progressive ataxia

A

Recessive type: early onset (before age 20)

Dominant: late onset

****emphasize most have no family hx hence spontaneous mutation

149
Q

Pattern of inheritance & chromosome implicated w/ Friedreich Ataxia

A

AR, chromosome 9q13-2

150
Q

Mutation in Friedreich Ataxia

A

Expansion of GAA repeat coded for fraxatin

151
Q

Mitochondrial protein matrix preventing intramitochondrial loading

A

Fraxatin

152
Q

Spinocerebellar ataxia, neuropathy, cardiomyopathy arrhythmia, kyphoscoliosis and hammertoes occurring in TEENS (AR)

A

Friedreich’s ataxia

153
Q

Spinocerebellar ataxia, neuropathy, cardiomyopathy arrhythmia occurring in CHILD (AR) related to lack of vitamin

A

Variant of Friedreich Ataxia

154
Q

Prototype of all forms of progressive spinocerebellar ataxias

A

Friedreich ataxia

155
Q

Always the initial symptom of Friedreich’s ataxia

A

Ataxia

156
Q

Characteristic foot deformity in Friedreich’s ataxia

A

Hammertoes

157
Q

Notable feature in Friedreich’s ataxia hence requires careful cardiologic assessment

A

Cardiomyopathy

158
Q

T/F. Tendon reflexes are intact in Friedreich’s ataxia

A

FALSE. Nearly all are abolished especially in later stages

159
Q

In Friedreich’s ataxia, CT or MRI may show:

A

Cerebellar atrophy and spinal cord is small

160
Q

Neuropathologic changes in Friedreich’s ataxia

A

Spinal cord thin: due depleted myelinated fibers of posterior column, corticospinal tract, spinocerebellar tract

Moderate neuronal loss of dentate nuclei, middle & superior cerebellar peduncles

Amyotrophy of intrinsic muscles of foot & kyphoscoliosis

161
Q

Treatment used in Friedreich’s ataxia to:

  • Modify cerebellar symptoms
  • Reduced progression of LVH, arrhythmia, and sudden death
A
  • 5-hydroxytryptophan
  • Idebenone
162
Q

Ataxia related to degeneration of cerebellum and brainstem w/ sparing of spinal cord

A

Predominantly Cerebellar Hereditary & Sporadic Ataxia (Holmes Type)

163
Q

Progressive ataxia, hesitant speech, rare nystagmus and preserved intelligence occurring at fourth decade

A

Predominantly Cerebellar Hereditary & Sporadic Ataxia (Holmes Type)

164
Q

Pathologic changes in Predominantly Cerebellar Hereditary & Sporadic Ataxia (Holmes Type)

A

Symmetrical atrophy of cerebellum mainly the vermis and anterior lobe

165
Q

Disease that is similar in terms of clinical and pathologic changes in Predominantly Cerebellar Hereditary & Sporadic Ataxia (Holmes Type)

A

Alcoholic cerebellar degeneration

166
Q

Ataxia caused by extended trinucleotide repeat of CGG (50-200 rpts) in FMR1 gene, and breakage of X-chromosome, associated w/ developmental delay

T2 hyperintensities in cererbellar peduncles are characteristic

A

Fragile X Tremor-Ataxic Permutation Syndrome

167
Q

SCA w/ that AD inheritance initially observed among Azoreans presenting as ataxia, spasticity, neuropathy and EXTRAPYRAMIDAL features

A

Machado-Joseph Disease (SCA3)

168
Q
  • Cerebellar ataxia w/ choreoathetosis & dystonia
  • Gene defect is unstable CAG trinucleotide repeat coding for protein
A
  • Dentatorubropallidoluysian (DRPLA)
  • Atrophin
169
Q

Paroxysmal ataxia, where vertigo is the prominent symptom and responsive to acetazolamide

_______ gene on Chrom 19

A

Episodic Ataxia-2

Calcium channel

170
Q

Paroxysmal ataxia precipitated by exercise and presence of myokimia caused by _______ gene on Chrom 12

A

Episodic Ataxia-1

Potassium channel

171
Q

Relatively pure form of myoclonus w/o ataxia that is autosomal dominant responsive w/ clonazepam, VPA, and 5-hydroxytryptophan

A

Hereditary Benign Essential Myoclonus

172
Q

The gene mutation in ALS in familial cases

A

SOD1 gene (superoxide dismutase)

173
Q

Earliest manifestation of LMN in ALS is

A

Volitional cramping

174
Q

ALS triad

A
  • Atrophic weakness of hands & forearms/ fasciculations
  • Spasticity & generalized hyperreflexia
  • Absent sensory changes
175
Q

T/F. Fasciculation is almost always the sole presenting feature of ALS

A

FALSE. Almost NEVER.

176
Q

Half of patient succumb in _____ years

And 90 % in ______ years

A
  • 3 years
  • 6 years
177
Q

Purely LMN syndrome common in men, that has slower progression w/ 15 years survival

A

Progressive muscular atrophy

178
Q

The main disease to be distinguished from Progressive muscular atrophy

A

Immune-mediated motor neuropathy

179
Q

Distinguishing feature of Primary Lateral Sclerosis from ALS,

A

Purely UMN progression for 3 years w/o evidence of LMN

180
Q

EMG diagnostic criteria for ALS

A

Denervation demonstrated in at least 3 limbs

May also include paraspinal or genioglossus denervation

181
Q

Treatment for ALS that may slow progression and add only 3 MONTHS of life

A

Riluzole

182
Q

T/F. The amount of SMN 2 protein determines the severity and time of onset of disease.

A

TRUE. Less SMN2 copies more severe

183
Q

SMA that manifest upon birth as neonatal hypotonia, due to 2 copies of SMN2 protein

A

SMA I (Infantile, Werdnig-Hoffmann)

184
Q

SMA w/ delayed motor development and proximal leg weakness, that is slowly progressive usually beyond 1 year old

A

SMA III (W-K-W disease)

185
Q

Distal muscular atrophy w/ prominent bulbar signs, associated w/ gynecomastia, oligospermia and diabetes

Genetic defect is CAG expansion in the gene coding ______ at short arm of X-chromosome

A
  • Kennedy Syndrome
  • Androgen receptor
186
Q

Progressive bulbar palsy in childhood that is autosomal recessive associated w/ mutation in riboflavin receptor

A

Fazio-Londe Syndrome

187
Q

Progressive visual loss w/ evident optic atrophy related to mitochondrial disease. Onset is 18-25 y/o

A

Leber Heriditary Optic Atrophy

188
Q

Progressive visual loss initially w/ nyctalopia, w/ triad of ophthalmoscopic finding of pigmentary deposits in bone corpuscles, attenuated vessels and pallor optic disc.

A

Retinitis pigmentosa

189
Q

Inverse of retinitis pigmentosa, where progressive visual loss by macular degeneration w/ pathognomonic “dark choroid” pattern

A

Stargardt disease

Adams 10th Ed (8 decks)

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