Other degenerative disorder Flashcards
(195 cards)
1
Q
3 frontotemporal lobar degeneration
A
Behavior variant FTLD
Primary progressivr aphasias
Posterior cortical atrophy
2
Q
FTLD - Personality and related abnormalities (ie disinhibition)
A
Behavior variant FTLD
3
Q
Imaging of behavior variant FTLD
A
disproportionate atrophy in the frontal lobes
4
Q
Pathophysio of behavior variant FTLD
A
Tau accumulation
Hyperphosphorylation
5
Q
Chromosome that encodes tau protein linked to behavior variant FTLD
A
Chromosome 17
6
Q
Chromosome 17 encodes
A
Tau protein
7
Q
Visuospatial difficulty FTLD
A
Posterior cortical atrophy
8
Q
2nd MF pathologic diagnosis dementia syndromes
A
Lewy body dementia (Diffuse body lewy dse)
9
Q
Main components of Lewy body
A
Ubiquitin and synuclein
10
Q
Pathology of Lewy body dementia (Diffuse body lewy dse)
A
Aggregated alpha synuclei
11
Q
CF of Lewy body dementia (Diffuse body lewy dse)
A
Parkinsonian features, DEMENTIA, episodic delirium, REM sleep behavior disorder
12
Q
Uncharacteristic of AD, CF of Lewy body dementia (Diffuse body lewy dse)
A
Episodic confusion, hallucinations, and paranoid delusions
13
Q
Parkinsonian features of LBD
A
Responds to L Dopa for a limited time
14
Q
Orthostatic Hypotension
A
Lewy body dimentia (Diffuse body lewy dse)
15
Q
Huntington triad
A
Dominant inheritance
Choreoathetosis
Dementia
16
Q
Triad of dominant inheritance, chereoathetosis, dementia
A
Hungtinton dse (chorea)
17
Q
Huntington dse (chorea) pattern of inheritance
A
Autosomal dominant gene with complete penetrance
18
Q
Usual age on onset Huntington dse (chorea)
A
4th and 5th decades
19
Q
Genetic pathology of Huntington dse (chorea)
A
Excessively long repeat of CAG within Huntington gene
20
Q
Huntington dse (chorea) marker
A
short arm of chromosome 4
21
Q
Mental do Alterations of personality Poor self control Diminished work performance Gradual deterioration of intellectual function
A
Huntington dse (chorea)
22
Q
Huntington dse (chorea) 5 characters
A
Mental do Alterations of personality Poor self control Diminished work performance Gradual deterioration of intellectual function
23
Q
Abnormality of movement: slowness of movement
A
Chorea
24
Q
Late onset cases of Huntington dse (chorea) rapid movement of tounge and mouth like
A
Tardive dyskinesia
25
Pathology of Huntington Dse (atrophy)
Gross atrophy of head caudate, putamen
26
Huntington dse occulomotor dysfunction
Impaired initiation and slowness of both pursuit and volitional saccadic movements
27
Impaired initiation and slowness of both pursuit and volitional saccadic movements
Huntington dse occulomotor dysfunction
28
Mechanism of dse (Huntington)
Anticipation - earlier onset in succesive generations
| Huntingtin - expansion of polyglutamine region; protein accumulates in striatum
29
Expansion of polyglutamine region; protein accumulates in striatum
Huntingtin
30
huntingtin (protein) accumulates
In cells of striatum
31
Dx of huntington
DNA Analysis: more than 39 CAG repeats at Huntington locus
32
Tx of Huntington
Haloperidol (dopamine antagonist) 2-10 mg daily (does not alter progress of dse)
Reserpine clozapine tetrabezine - deplete dopamine
33
Tx of Huntington that deplete dopamine
Reserpine clozapine tetrabezine
34
Course fatal, ends in 5-10 years
Corticostriatospinal degenerations
35
Extreme rigidity, corticospinal signs
Corticostriatospinal degenerations
36
Mariana islands 50-60
Severe cortical atrophy with NFT
Loss of anterior horn cells
Guamanian Parkinson - dementia ALS
37
describe Guamanian Parkinson - dementia ALS
Mariana islands 50-60
Severe cortical atrophy with NFT
Loss of anterior horn cells
38
Progressive neuro dse - spasticity chorea dementia sensory polyneuropathy
Adult polulyglucosan body dse
39
Guamanian Parkinson - dementia ALS islands
Mariana islands
40
Guamanian Parkinson - dementia ALS age
50-60
41
Severe cortical atrophy with NFT
Guamanian Parkinson - dementia ALS
42
Loss of anterior horn cells
Guamanian Parkinson - dementia ALS
43
Lafora bodies and corpora amylacea on neural process made up of glucose polymers
Adult polyglucosan body dse
44
Histopath of adult polyglucosan body dse
Lafora bodies and corpora amylacea
45
degree of dementia in Adult polyglucosan body dse
Dementia is mild
46
Nerve conduction velocities diminished
Adult polulyglucosan body dse
47
Progressive neuro dse - spasticity chorea dementia sensory polyneuropathy
Lafora bodies, corpora amylacea
Mild dementia
Diminished nerve conductiom velocities
Adult polyglucosan body dse
48
3 forms of Multiple system atrophy MSA
Striatonigral degeneration
Shy dagger syndrome
Olivopontocerebellar degeneration
49
Striatonigral degeneration
Shy dagger syndrome
Olivopontocerebellar degeneration
what dse?
Multiple system atrophy MSA
50
In MSA, there is extensive loss of neurons in what part?
Zona compacta of Substantia Nigra
51
In MSA there is degenerative changes in what part?
Putamina
52
CF of MSA - 2
Orthostatic hypotension
| Autonomic failure
53
No lewy bodies or tangles
MSA
54
Extensive loss of neurons in zona compacta in substantia nigra
MSA
55
Degenerative changes in putamina
MSA
56
CF orthostatic hypotension, autonomic failure
MSA
57
Extrapyramidal illness is more severe in what dse?
MSA
58
Relative symmetry of signs, lack of response to L dopa, minimal tremor, early presence of autonomic dse
MSA
59
MRI and CT of MSA
Atrophy of cerebellum and pons
60
CT, MRI: Atrophy of cerebellum and pons
MSA
61
Cerebellum hot cross sign
MSA
62
MSA patho
Cytoplasmic aggregates - glial cytoplasmic inclusion - contain alpha synuclein
63
Cytoplasmic aggregates - glial cytoplasmic inclusion - contain alpha synuclein
MSA
64
6th decade 45-75
Progressive Supranuclear Palsy PSP
65
```
Difficulty in balance
abrupt falls
visual and ocular disturbances
slurring of speech
dysphagia
```
Progressive Supranuclear Palsy PSP
66
Diff in voluntary vertical movement of the eyes (often downward)
Progressive Supranuclear Palsy PSP
67
```
face - staring "worried expression"
diff swallowing
forced laughing crying
sleep disturbances
REM sleep reduced
```
Progressive Supranuclear Palsy PSP
68
wide eyed stare
Progressive Supranuclear Palsy PSP
69
```
Posture hyperextension
Unsteady gait
loss of Vertical eye movements
dysphagia
speech diff
```
Progressive Supranuclear Palsy PSP
70
Suspected when older adult inexplicably develops state of imbalance frequent falls w/ PRESERVED CONSCIOUSNESS and variable extrapyramidal sx (neck dystonia, ocular palsies)
Progressive Supranuclear Palsy PSP
71
location of lesion in Progressive Supranuclear Palsy PSP
Midbrain
72
Progressive Supranuclear Palsy PSP Pathology
bilateral loss of neurons
gliosis in periaqueductal gray matter, sup colliculus, subthalamic nucleus
also NFT
73
bilateral loss of neurons
gliosis in periaqueductal gray matter, sup colliculus, subthalamic nucleus
also NFT
Progressive Supranuclear Palsy PSP
74
Midbrain atrophy
| Mickey mouse ear sign
Progressive Supranuclear Palsy PSP
75
Tx of Progressive Supranuclear Palsy PSP
L dopa of slight and unsustained benefit
76
Proteins that assume alternative conformation
Prions
77
Rapidly progressive dementia + motor abn
Creutzfeldt Jakob Disease CJD
78
Prion binds to PrPc --> PrPsc
Prion
79
Prion patho
Prion binds to PrPc --> PrPsc
80
CJD patho
spongiform degeneration
| astrocytic gliosis
81
spongiform degeneration
| astrocytic gliosis
CJD
82
CJD site of pathology
```
cerebral cortex
cerbellum
caudate
putamen
thalamus
```
83
initial non specific sx of CJD
```
dementia syndrome
psych manifestations
visual, cerebellar problems
seizures
extrapyramidal signs
```
84
```
dementia syndrome
psych manifestations
visual, cerebellar problems
seizures
extrapyramidal signs
```
CJD non specific sx
85
90% of CJD cases has
myoclonus
86
Dx tools in CJD
```
EEG - periodic electrical bursts
Immunoassay - PrP 27-30
CSF elevat3d 14 3 3
Biopsy
MRI
```
87
Caused by Prions not killed by standard methods for sterilizing surgical equipment
CJD
88
Pathology of CJD
Prions build up in cells
brain slowly shrinks
tissue fills with holes resembling sponge
89
prototype for progressive spinocerebellar ataxias
Freidrich Ataxia
90
A non syphilitic hereditary type of ATAXIA
Freidrich Ataxia
91
autosomal recessive; ch 9q13-2
Freidrich Ataxia
92
expansion of GAA trinucleotide repeat (codes for protein frataxin)
Freidrich Ataxia
93
initial sx of Freidrich Ataxia
ataxia of gait
| diff standing steadily and running
94
clumsy hands --> dysarthric speech
Freidrich Ataxia
95
Freidrich Ataxia expansion of?
GAA trinucleotide repeat (codes for frataxin)
96
Freidrich Ataxia hereditary pattern? Chromosome?
AR ch 9q13-2
97
foot deformity: high plantar arch with retraction of toes at MTP joints and flexion at interphalangeal joint (hammertoes)
Freidrich Ataxia
98
foot deformity in FA
high plantar arch with retraction of toes at MTP joints and flexion at interphalangeal joint (hammertoes)
99
notable feature of FA
Cardiomyopathy
100
Cardiomyopathy is a notable feature
Freidrich Ataxia
101
kyphoscoliosis
Freidrich Ataxia
102
insulin deficiency and resistance
Freidrich Ataxia
103
gait abnormality -- mixed sensory and cerebellar (tabetocerebellar)
Freidrich Ataxia
104
Freidrich Ataxia gait abnormality
tabetocerebellar (mixed sensory and cerebellar)
105
feet wide apart, shifting position to maintain balance
static ataxia
106
Romberg sign (affection of posterior columns)
Freidrich Ataxia
107
Cerebellar ataxia is due to (2)
1 degeneration of sup vermis
| 2 deg of spinocerebellar tracts
108
1 degeneration of sup vermis
| 2 deg of spinocerebellar tracts
cerebellar ataxia
109
emotional lability
Freidrich Ataxia
110
horizontal nystagmus (late)
Freidrich Ataxia
111
amyotrophy
pes cavus
kyphoscoliosis
Freidrich Ataxia
112
Freidrich Ataxia labs
ncv
2d echo
ct mri
ncv normal
2d ventricular hypertrophy
ct mri sc small
113
labs
ncv normal
2d ventricular hypertrophy
ct mri sc small
FA
114
spinal cord is thin
| post columns and corticospinal tract and spinocerebellar tracts depleted of myelinated fibers
FA
115
FA patho
spinal cord is thin
| post columns and corticospinal tract and spinocerebellar tracts depleted of myelinated fibers
116
```
deg of
post columns
spinocerebellar t.
corticospinal t.
atrophy of dorsal roots
```
FA
117
atrophy of dorsal roots
FA
118
What vitamin must be tested in FA
Vit E levels
119
Inherited def of Vit E causes what syndrome
spinocerebellar syndrome
120
FA tx
little effective therapy
| 5-hydroxytryptophan
121
patho of amyotrophic lateral sclerosis ALS
deg of LMN (ant horn cell) + UMN (corticospina t.)
122
deg of LMN (ant horn cell) + UMN (corticospinal t.)
ALS
123
process involve in ALS which leads to weakness
denervaton
124
lab features: cytoplasmic inclusions - TD4 and ubiquitin
ALS
125
ALS lab features
lab features: cytoplasmic inclusions - TD4 and ubiquitin
126
weakness in distal part of 1 limb (foot drop, awkwardness in fine finger movements)
ALS
127
weakness +wasting of hand muscles (lmn)
als
128
cramping and fasciculations (lmn)
als
129
babinski and hoffman, hyperflexia (umn)
als
130
initially assymetry of findings
als
131
als triad
atrophic weakness of hands and forearm
fasciculations
spasticity of arms or legs
generalized hyperflexia
132
atrophic weakness of hands and forearm
fasciculations
spasticity of arms or legs
generalized hyperflexia
als
133
LMN of brainstem
Progressive bulbar palsy PBP
134
LMN of SC
Spinal/progressive muscular atrophy
135
LMN of SC
Spinal/progressive muscular atrophy
136
UMN only
Primary lateral sclerosis
137
involves muscles of jaw tounge pharynx larynx
Progressive bulbar palsy PBP
138
what muscles are involve in Progressive bulbar palsy PBP
jaw face tounge pharynx larynx
139
early defect in articulation
Progressive bulbar palsy PBP
140
slurring
impaired mastication, deglution
extreme jaw spasticity
pseudobulbar signs (pathologic crying and laughing)
Progressive bulbar palsy PBP
141
slurring -- due to spasticity of tounge pharyngeal and laryngeal muscles
Progressive bulbar palsy PBP
142
impaired mastication and deglutition
Progressive bulbar palsy PBP
143
extreme jaw spasticity
Progressive bulbar palsy PBP
144
pseudobulbar signs
pathologic crying and laughing
145
progressive
| weakness spreads to respiratory muscles and deglutition fails
Progressive bulbar palsy PBP
146
purely LMN
Progressive muscular atrophy PMA
147
men > women
slower progression
age is a factor (younger more benign)
Progressive muscular atrophy PMA
148
slower progression
Progressive muscular atrophy PMA
149
age is a factor (younger more benign)
Progressive muscular atrophy PMA
150
SOD1 gene mutation
Progressive muscular atrophy PMA
151
Mutation in Progressive muscular atrophy PMA
SOD1 gene
152
Initially symmetrical wasting of intrinsic hand muscles (proximal progression)
Progressive muscular atrophy PMA
153
progressive muscular atrophy in infancy, childhood
Spinal muscular atrophy SMA
154
SMA type 1
Werdnig-Hoffman of infantile spinal muscular atrophy
155
SMN gene mutation
Werdnig-Hoffman of infantile spinal muscular atrophy
156
Werdnig-Hoffman of infantile spinal muscular atrophy MUTATION
SMN gene
157
Corticospinal tract do solely UMN
Primary lateral sclerosis PLS
158
solely UMN
Primary lateral sclerosis PLS
159
stiffness in 1 leg --> other leg --> spasticity predominating weakness
Primary lateral sclerosis PLS
160
5th or 6th decade
Primary lateral sclerosis PLS
161
lab features of motor neuron dse
| EMG
widespread fibrillations
fasciculations
enlarged motor unit
widespread denervation of paraspinal muscles, genioglossus or facial muscles
162
familial ALS
C9orf72
SOD
TDP 43
FUS/TLS
163
C9orf72
familial ALS
164
mimics of ALS
```
compression of cervical SC
multifocal motor NP with conduction block (MMCB)
lymphoma
multiple myeloma
chronic lead poisoning
thyrotoxicosis
```
165
compression of cervical SC
mimics ALS
166
multifocal motor NP with conduction block (MMCB)
mimics ALS
167
lymphoma
mimics ALS
168
multiple myeloma
mimics ALS
169
chronic lead poisoning
mimics ALS
170
thyrotoxicosis
mimics ALS
171
Tx of motor neuron dse
riluzole - antiglutamate; slows progression of ALS
edavarone
ASO antisense oligonucleotides vs SOD1
172
antiglutamate; slows progression of ALS
| Tx of motor neuron dse
riluzole
173
edavarone
Tx of motor neuron dse
174
Tx of motor neuron dse on going trial
ASO antisense oligonucleotides vs SOD1
175
riluzole
antiglutamate; slows progression of ALS
| Tx of motor neuron dse
176
Tx of motor neuron dse TO REDUCE SPASTICITY
baclofen
tizanidine
benzodiazepine
dantrolene
177
baclofen
Tx of motor neuron dse TO REDUCE SPASTICITY
178
tizanidine
Tx of motor neuron dse TO REDUCE SPASTICITY
179
benzodiazepines
Tx of motor neuron dse TO REDUCE SPASTICITY
180
dantrolene
Tx of motor neuron dse TO REDUCE SPASTICITY
181
Tx of motor neuron dse
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
TREMOR involuntary patterned sustained muscle contractions with twisting movements abn posture
dystonia
183
TREMOR slow distal writhing involuntary movements UE > LE
Athetosis
184
athethosis UE or LE?
UE > LE
185
TREMOR rapid semu pursposeful graceful dance like involuntary movement
chorea
186
TREMOR of large amplitude proximal distribution
Ballism
187
sudden brief <100 ms jerk like arhythmic muscle twitches
myoclonus
188
TREMOR brief repeated stereotyped muscle contractions that can be suppressed for a short time
tic
189
alternating contactions of agonist and antagonist muscles in oscillating rhythmic pattern
Tremors
190
classification of tremors and their examples
```
resting - parkinsonian tremor
postural - essential t.
kinetic - cerebellar dysfunction
action
physiologic - normal individuals
```
191
```
mc movement do
inc in elderly >70y
6-10 hz tremor UE>LE
typically bilateral, symmetric
head face voice tounge involvement
improved by alcohol
```
Essential tremor (Postural)
192
6-10 hz tremor UE>LE
Essential tremor (Postural)
193
TREMOR mc movement do
Essential tremor (Postural)
194
improved by alcohol
Essential tremor (Postural)
195
head face voice tounge involvement
Essential tremor (Postural)
