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Other degenerative disorder Flashcards

1
Q

3 frontotemporal lobar degeneration

A

Behavior variant FTLD
Primary progressivr aphasias
Posterior cortical atrophy

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2
Q

FTLD - Personality and related abnormalities (ie disinhibition)

A

Behavior variant FTLD

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3
Q

Imaging of behavior variant FTLD

A

disproportionate atrophy in the frontal lobes

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4
Q

Pathophysio of behavior variant FTLD

A

Tau accumulation

Hyperphosphorylation

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5
Q

Chromosome that encodes tau protein linked to behavior variant FTLD

A

Chromosome 17

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6
Q

Chromosome 17 encodes

A

Tau protein

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7
Q

Visuospatial difficulty FTLD

A

Posterior cortical atrophy

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8
Q

2nd MF pathologic diagnosis dementia syndromes

A

Lewy body dementia (Diffuse body lewy dse)

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9
Q

Main components of Lewy body

A

Ubiquitin and synuclein

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10
Q

Pathology of Lewy body dementia (Diffuse body lewy dse)

A

Aggregated alpha synuclei

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11
Q

CF of Lewy body dementia (Diffuse body lewy dse)

A

Parkinsonian features, DEMENTIA, episodic delirium, REM sleep behavior disorder

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12
Q

Uncharacteristic of AD, CF of Lewy body dementia (Diffuse body lewy dse)

A

Episodic confusion, hallucinations, and paranoid delusions

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13
Q

Parkinsonian features of LBD

A

Responds to L Dopa for a limited time

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14
Q

Orthostatic Hypotension

A

Lewy body dimentia (Diffuse body lewy dse)

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15
Q

Huntington triad

A

Dominant inheritance
Choreoathetosis
Dementia

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16
Q

Triad of dominant inheritance, chereoathetosis, dementia

A

Hungtinton dse (chorea)

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17
Q

Huntington dse (chorea) pattern of inheritance

A

Autosomal dominant gene with complete penetrance

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18
Q

Usual age on onset Huntington dse (chorea)

A

4th and 5th decades

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19
Q

Genetic pathology of Huntington dse (chorea)

A

Excessively long repeat of CAG within Huntington gene

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20
Q

Huntington dse (chorea) marker

A

short arm of chromosome 4

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21
Q 
Mental do
Alterations of personality 
Poor self control
Diminished work performance 
Gradual deterioration of intellectual function
A

Huntington dse (chorea)

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22
Q

Huntington dse (chorea) 5 characters

A 
Mental do
Alterations of personality 
Poor self control
Diminished work performance 
Gradual deterioration of intellectual function
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23
Q

Abnormality of movement: slowness of movement

A

Chorea

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24
Q

Late onset cases of Huntington dse (chorea) rapid movement of tounge and mouth like

A

Tardive dyskinesia

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25
Q

Pathology of Huntington Dse (atrophy)

A

Gross atrophy of head caudate, putamen

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26
Q

Huntington dse occulomotor dysfunction

A

Impaired initiation and slowness of both pursuit and volitional saccadic movements

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27
Q

Impaired initiation and slowness of both pursuit and volitional saccadic movements

A

Huntington dse occulomotor dysfunction

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28
Q

Mechanism of dse (Huntington)

A

Anticipation - earlier onset in succesive generations

Huntingtin - expansion of polyglutamine region; protein accumulates in striatum

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29
Q

Expansion of polyglutamine region; protein accumulates in striatum

A

Huntingtin

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30
Q

huntingtin (protein) accumulates

A

In cells of striatum

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31
Q

Dx of huntington

A

DNA Analysis: more than 39 CAG repeats at Huntington locus

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32
Q

Tx of Huntington

A

Haloperidol (dopamine antagonist) 2-10 mg daily (does not alter progress of dse)
Reserpine clozapine tetrabezine - deplete dopamine

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33
Q

Tx of Huntington that deplete dopamine

A

Reserpine clozapine tetrabezine

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34
Q

Course fatal, ends in 5-10 years

A

Corticostriatospinal degenerations

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35
Q

Extreme rigidity, corticospinal signs

A

Corticostriatospinal degenerations

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36
Q

Mariana islands 50-60
Severe cortical atrophy with NFT
Loss of anterior horn cells

A

Guamanian Parkinson - dementia ALS

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37
Q

describe Guamanian Parkinson - dementia ALS

A

Mariana islands 50-60
Severe cortical atrophy with NFT
Loss of anterior horn cells

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38
Q

Progressive neuro dse - spasticity chorea dementia sensory polyneuropathy

A

Adult polulyglucosan body dse

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39
Q

Guamanian Parkinson - dementia ALS islands

A

Mariana islands

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40
Q

Guamanian Parkinson - dementia ALS age

A

50-60

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41
Q

Severe cortical atrophy with NFT

A

Guamanian Parkinson - dementia ALS

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42
Q

Loss of anterior horn cells

A

Guamanian Parkinson - dementia ALS

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43
Q

Lafora bodies and corpora amylacea on neural process made up of glucose polymers

A

Adult polyglucosan body dse

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44
Q

Histopath of adult polyglucosan body dse

A

Lafora bodies and corpora amylacea

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45
Q

degree of dementia in Adult polyglucosan body dse

A

Dementia is mild

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46
Q

Nerve conduction velocities diminished

A

Adult polulyglucosan body dse

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47
Q

Progressive neuro dse - spasticity chorea dementia sensory polyneuropathy
Lafora bodies, corpora amylacea
Mild dementia
Diminished nerve conductiom velocities

A

Adult polyglucosan body dse

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48
Q

3 forms of Multiple system atrophy MSA

A

Striatonigral degeneration
Shy dagger syndrome
Olivopontocerebellar degeneration

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49
Q

Striatonigral degeneration
Shy dagger syndrome
Olivopontocerebellar degeneration

what dse?

A

Multiple system atrophy MSA

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50
Q

In MSA, there is extensive loss of neurons in what part?

A

Zona compacta of Substantia Nigra

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51
Q

In MSA there is degenerative changes in what part?

A

Putamina

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52
Q

CF of MSA - 2

A

Orthostatic hypotension

Autonomic failure

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53
Q

No lewy bodies or tangles

A

MSA

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54
Q

Extensive loss of neurons in zona compacta in substantia nigra

A

MSA

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55
Q

Degenerative changes in putamina

A

MSA

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56
Q

CF orthostatic hypotension, autonomic failure

A

MSA

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57
Q

Extrapyramidal illness is more severe in what dse?

A

MSA

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58
Q

Relative symmetry of signs, lack of response to L dopa, minimal tremor, early presence of autonomic dse

A

MSA

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59
Q

MRI and CT of MSA

A

Atrophy of cerebellum and pons

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60
Q

CT, MRI: Atrophy of cerebellum and pons

A

MSA

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61
Q

Cerebellum hot cross sign

A

MSA

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62
Q

MSA patho

A

Cytoplasmic aggregates - glial cytoplasmic inclusion - contain alpha synuclein

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63
Q

Cytoplasmic aggregates - glial cytoplasmic inclusion - contain alpha synuclein

A

MSA

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64
Q

6th decade 45-75

A

Progressive Supranuclear Palsy PSP

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65
Q 
Difficulty in balance 
abrupt falls
visual and ocular disturbances
slurring of speech
dysphagia
A

Progressive Supranuclear Palsy PSP

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66
Q

Diff in voluntary vertical movement of the eyes (often downward)

A

Progressive Supranuclear Palsy PSP

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67
Q 
face - staring "worried expression"
diff swallowing
forced laughing crying
sleep disturbances
REM sleep reduced
A

Progressive Supranuclear Palsy PSP

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68
Q

wide eyed stare

A

Progressive Supranuclear Palsy PSP

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69
Q 
Posture hyperextension
Unsteady gait
loss of Vertical eye movements
dysphagia
speech diff
A

Progressive Supranuclear Palsy PSP

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70
Q

Suspected when older adult inexplicably develops state of imbalance frequent falls w/ PRESERVED CONSCIOUSNESS and variable extrapyramidal sx (neck dystonia, ocular palsies)

A

Progressive Supranuclear Palsy PSP

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71
Q

location of lesion in Progressive Supranuclear Palsy PSP

A

Midbrain

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72
Q

Progressive Supranuclear Palsy PSP Pathology

A

bilateral loss of neurons
gliosis in periaqueductal gray matter, sup colliculus, subthalamic nucleus
also NFT

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73
Q

bilateral loss of neurons
gliosis in periaqueductal gray matter, sup colliculus, subthalamic nucleus
also NFT

A

Progressive Supranuclear Palsy PSP

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74
Q

Midbrain atrophy

Mickey mouse ear sign

A

Progressive Supranuclear Palsy PSP

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75
Q

Tx of Progressive Supranuclear Palsy PSP

A

L dopa of slight and unsustained benefit

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76
Q

Proteins that assume alternative conformation

A

Prions

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77
Q

Rapidly progressive dementia + motor abn

A

Creutzfeldt Jakob Disease CJD

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78
Q

Prion binds to PrPc –> PrPsc

A

Prion

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79
Q

Prion patho

A

Prion binds to PrPc –> PrPsc

80
Q

CJD patho

A

spongiform degeneration

astrocytic gliosis

81
Q

spongiform degeneration

astrocytic gliosis

82
Q

CJD site of pathology

A 
cerebral cortex
cerbellum
caudate 
putamen
thalamus
83
Q

initial non specific sx of CJD

A 
dementia syndrome
psych manifestations
visual, cerebellar problems 
seizures
extrapyramidal signs
84
Q 
dementia syndrome
psych manifestations
visual, cerebellar problems 
seizures
extrapyramidal signs
A

CJD non specific sx

85
Q

90% of CJD cases has

86
Q

Dx tools in CJD

A 
EEG - periodic electrical bursts
Immunoassay - PrP 27-30
CSF elevat3d 14 3 3 
Biopsy
MRI
87
Q

Caused by Prions not killed by standard methods for sterilizing surgical equipment

88
Q

Pathology of CJD

A

Prions build up in cells
brain slowly shrinks
tissue fills with holes resembling sponge

89
Q

prototype for progressive spinocerebellar ataxias

A

Freidrich Ataxia

90
Q

A non syphilitic hereditary type of ATAXIA

A

Freidrich Ataxia

91
Q

autosomal recessive; ch 9q13-2

A

Freidrich Ataxia

92
Q

expansion of GAA trinucleotide repeat (codes for protein frataxin)

A

Freidrich Ataxia

93
Q

initial sx of Freidrich Ataxia

A

ataxia of gait

diff standing steadily and running

94
Q

clumsy hands –> dysarthric speech

A

Freidrich Ataxia

95
Q

Freidrich Ataxia expansion of?

A

GAA trinucleotide repeat (codes for frataxin)

96
Q

Freidrich Ataxia hereditary pattern? Chromosome?

A

AR ch 9q13-2

97
Q

foot deformity: high plantar arch with retraction of toes at MTP joints and flexion at interphalangeal joint (hammertoes)

A

Freidrich Ataxia

98
Q

foot deformity in FA

A

high plantar arch with retraction of toes at MTP joints and flexion at interphalangeal joint (hammertoes)

99
Q

notable feature of FA

A

Cardiomyopathy

100
Q

Cardiomyopathy is a notable feature

A

Freidrich Ataxia

101
Q

kyphoscoliosis

A

Freidrich Ataxia

102
Q

insulin deficiency and resistance

A

Freidrich Ataxia

103
Q

gait abnormality – mixed sensory and cerebellar (tabetocerebellar)

A

Freidrich Ataxia

104
Q

Freidrich Ataxia gait abnormality

A

tabetocerebellar (mixed sensory and cerebellar)

105
Q

feet wide apart, shifting position to maintain balance

A

static ataxia

106
Q

Romberg sign (affection of posterior columns)

A

Freidrich Ataxia

107
Q

Cerebellar ataxia is due to (2)

A

1 degeneration of sup vermis

2 deg of spinocerebellar tracts

108
Q

1 degeneration of sup vermis

2 deg of spinocerebellar tracts

A

cerebellar ataxia

109
Q

emotional lability

A

Freidrich Ataxia

110
Q

horizontal nystagmus (late)

A

Freidrich Ataxia

111
Q

amyotrophy
pes cavus
kyphoscoliosis

A

Freidrich Ataxia

112
Q

Freidrich Ataxia labs
ncv
2d echo
ct mri

A

ncv normal
2d ventricular hypertrophy
ct mri sc small

113
Q

labs
ncv normal
2d ventricular hypertrophy
ct mri sc small

114
Q

spinal cord is thin

post columns and corticospinal tract and spinocerebellar tracts depleted of myelinated fibers

115
Q

FA patho

A

spinal cord is thin

post columns and corticospinal tract and spinocerebellar tracts depleted of myelinated fibers

116
Q 
deg of
post columns
spinocerebellar t.
corticospinal t.
atrophy of dorsal roots
117
Q

atrophy of dorsal roots

118
Q

What vitamin must be tested in FA

A

Vit E levels

119
Q

Inherited def of Vit E causes what syndrome

A

spinocerebellar syndrome

120
Q

FA tx

A

little effective therapy

5-hydroxytryptophan

121
Q

patho of amyotrophic lateral sclerosis ALS

A

deg of LMN (ant horn cell) + UMN (corticospina t.)

122
Q

deg of LMN (ant horn cell) + UMN (corticospinal t.)

123
Q

process involve in ALS which leads to weakness

A

denervaton

124
Q

lab features: cytoplasmic inclusions - TD4 and ubiquitin

125
Q

ALS lab features

A

lab features: cytoplasmic inclusions - TD4 and ubiquitin

126
Q

weakness in distal part of 1 limb (foot drop, awkwardness in fine finger movements)

127
Q

weakness +wasting of hand muscles (lmn)

128
Q

cramping and fasciculations (lmn)

129
Q

babinski and hoffman, hyperflexia (umn)

130
Q

initially assymetry of findings

131
Q

als triad

A

atrophic weakness of hands and forearm
fasciculations
spasticity of arms or legs
generalized hyperflexia

132
Q

atrophic weakness of hands and forearm
fasciculations
spasticity of arms or legs
generalized hyperflexia

133
Q

LMN of brainstem

A

Progressive bulbar palsy PBP

134
Q

LMN of SC

A

Spinal/progressive muscular atrophy

135
Q

LMN of SC

A

Spinal/progressive muscular atrophy

136
Q

UMN only

A

Primary lateral sclerosis

137
Q

involves muscles of jaw tounge pharynx larynx

A

Progressive bulbar palsy PBP

138
Q

what muscles are involve in Progressive bulbar palsy PBP

A

jaw face tounge pharynx larynx

139
Q

early defect in articulation

A

Progressive bulbar palsy PBP

140
Q

slurring
impaired mastication, deglution
extreme jaw spasticity
pseudobulbar signs (pathologic crying and laughing)

A

Progressive bulbar palsy PBP

141
Q

slurring – due to spasticity of tounge pharyngeal and laryngeal muscles

A

Progressive bulbar palsy PBP

142
Q

impaired mastication and deglutition

A

Progressive bulbar palsy PBP

143
Q

extreme jaw spasticity

A

Progressive bulbar palsy PBP

144
Q

pseudobulbar signs

A

pathologic crying and laughing

145
Q

progressive

weakness spreads to respiratory muscles and deglutition fails

A

Progressive bulbar palsy PBP

146
Q

purely LMN

A

Progressive muscular atrophy PMA

147
Q

men > women
slower progression
age is a factor (younger more benign)

A

Progressive muscular atrophy PMA

148
Q

slower progression

A

Progressive muscular atrophy PMA

149
Q

age is a factor (younger more benign)

A

Progressive muscular atrophy PMA

150
Q

SOD1 gene mutation

A

Progressive muscular atrophy PMA

151
Q

Mutation in Progressive muscular atrophy PMA

152
Q

Initially symmetrical wasting of intrinsic hand muscles (proximal progression)

A

Progressive muscular atrophy PMA

153
Q

progressive muscular atrophy in infancy, childhood

A

Spinal muscular atrophy SMA

154
Q

SMA type 1

A

Werdnig-Hoffman of infantile spinal muscular atrophy

155
Q

SMN gene mutation

A

Werdnig-Hoffman of infantile spinal muscular atrophy

156
Q

Werdnig-Hoffman of infantile spinal muscular atrophy MUTATION

157
Q

Corticospinal tract do solely UMN

A

Primary lateral sclerosis PLS

158
Q

solely UMN

A

Primary lateral sclerosis PLS

159
Q

stiffness in 1 leg –> other leg –> spasticity predominating weakness

A

Primary lateral sclerosis PLS

160
Q

5th or 6th decade

A

Primary lateral sclerosis PLS

161
Q

lab features of motor neuron dse

EMG

A

widespread fibrillations
fasciculations
enlarged motor unit

widespread denervation of paraspinal muscles, genioglossus or facial muscles

162
Q

familial ALS

A

C9orf72
SOD
TDP 43
FUS/TLS

163
Q

C9orf72

A

familial ALS

164
Q

mimics of ALS

A 
compression of cervical SC
multifocal motor NP with conduction block (MMCB)
lymphoma
multiple myeloma
chronic lead poisoning
thyrotoxicosis
165
Q

compression of cervical SC

A

mimics ALS

166
Q

multifocal motor NP with conduction block (MMCB)

A

mimics ALS

167
Q

lymphoma

A

mimics ALS

168
Q

multiple myeloma

A

mimics ALS

169
Q

chronic lead poisoning

A

mimics ALS

170
Q

thyrotoxicosis

A

mimics ALS

171
Q

Tx of motor neuron dse

A

riluzole - antiglutamate; slows progression of ALS
edavarone
ASO antisense oligonucleotides vs SOD1

172
Q

antiglutamate; slows progression of ALS

Tx of motor neuron dse

173
Q

edavarone

A

Tx of motor neuron dse

174
Q

Tx of motor neuron dse on going trial

A

ASO antisense oligonucleotides vs SOD1

175
Q

riluzole

A

antiglutamate; slows progression of ALS

Tx of motor neuron dse

176
Q

Tx of motor neuron dse TO REDUCE SPASTICITY

A

baclofen
tizanidine
benzodiazepine
dantrolene

177
Q

baclofen

A

Tx of motor neuron dse TO REDUCE SPASTICITY

178
Q

tizanidine

A

Tx of motor neuron dse TO REDUCE SPASTICITY

179
Q

benzodiazepines

A

Tx of motor neuron dse TO REDUCE SPASTICITY

180
Q

dantrolene

A

Tx of motor neuron dse TO REDUCE SPASTICITY

181
Q

Tx of motor neuron dse

A

TO REDUCE SPASTICITY baclofen, tizanidine
benzodiazepine, dantrolene
periodic monitoring of respi fxn MEASURE VITAL CAPACITY
BiPAP
Nutrition food cut into small pieces, feeding tube

182
Q

TREMOR involuntary patterned sustained muscle contractions with twisting movements abn posture

183
Q

TREMOR slow distal writhing involuntary movements UE > LE

184
Q

athethosis UE or LE?

185
Q

TREMOR rapid semu pursposeful graceful dance like involuntary movement

186
Q

TREMOR of large amplitude proximal distribution

187
Q

sudden brief <100 ms jerk like arhythmic muscle twitches

188
Q

TREMOR brief repeated stereotyped muscle contractions that can be suppressed for a short time

189
Q

alternating contactions of agonist and antagonist muscles in oscillating rhythmic pattern

190
Q

classification of tremors and their examples

A 
resting - parkinsonian tremor
postural - essential t.
kinetic - cerebellar dysfunction 
action
physiologic - normal individuals
191
Q 
mc movement do
inc in elderly >70y
6-10 hz tremor UE>LE
typically bilateral, symmetric
head face voice tounge involvement 
improved by alcohol
A

Essential tremor (Postural)

192
Q

6-10 hz tremor UE>LE

A

Essential tremor (Postural)

193
Q

TREMOR mc movement do

A

Essential tremor (Postural)

194
Q

improved by alcohol

A

Essential tremor (Postural)

195
Q

head face voice tounge involvement

A

Essential tremor (Postural)

Neurology (4 decks)

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