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Degenerative Flashcards

1
Q

What type of memory is affected in Alzheimers?

A

Episodic memory

Affected: short and long-term memory
Intact: immediate memory

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2
Q

What percentage of Alzheimers patients develop seizures late in the illness?

A

5%

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3
Q

Among the early symptoms of Alzheimers, which is the “most disabling”?

A

Executive dysfunction

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4
Q

Criteria for AD (Adams based this on NINCDS and ADRDA)

Give the 5

A
  1. Dementia (defined by clinical examination)
  2. Age > 40
  3. Deficits in at least 2 areas of cognition + progressive worsening (memory, other cognitive functions)
  4. Absence of disturbed consciousness
  5. Exclusion of other brain diseases
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5
Q

Regarding widespread loss of nerve cells in AD:

A) In which layer is this most pronounced within the early stages of AD?
B) Which layers have the most prominent Astrocytic hypertrophy?

A

A) Widespread loss of nerve cells most pronounced EARLY in layer II (entorhinal cortex)

B) ASTROCYTIC HYPERTROPHY most prominent in layers III and IV

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6
Q

Which histopathologic change corresponds best with the severity of the dementia in Alzheimers?

A

Neurofibrillary Tangles

And quantitative neuronal loss

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7
Q

What beta amyloid protein ratio is critical to the neuronal toxicity of amyloid?

A

AB42:AB40

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8
Q

The gene coding for amyloid precursor protein (APP) is located on which chromosome?

A

Chromosome 21

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9
Q

What are presenilin 1 and 2?

A

Endosomal proteins w/ are catalytic components of y secretase.

Mutations -> inc ab42

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10
Q

On TDP-43:
A) It is a product of inadequate functioning of which gene?
B) What is its role in AD?

A

A) Progranulin gene
B) Severity of the expression of AD

** also in FTD and MND

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11
Q

True or false: poorer linguistic capability early in life corresponded to the development of AD with aging

A

True

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12
Q

Which gene mutations are associated with AD inheritance and early presentation of Alzheimers Disease?

A

APP
PS1
PS2

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13
Q

Which gene modifies susceptibility to Alzheimers Disease?

A

Apo E

E-4 allele: risk

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14
Q

Which allele is underrepresented among AD patients?

A

E2

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15
Q

Which allele is associated with tripling the risk of developing sporadic AD, and on which chromosome can this be found?

A

e4 on chromosome 19

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16
Q

Which polymorphism implicated in AD causes inadequate phagocytic clearance of amyloid?

A

TREM2

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17
Q

Which gene is known to interact w/ PS1 and PS2 and is important for proteasomal degradation?

A

UBQLN1 (Ubiquilin 1)

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18
Q

Which antipsychotic is “slightly preferable” in AD?

A

Olanzapine

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19
Q

Main compinent of lewy bodies

A

a-synuclein

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20
Q

Diagnostic criteria for LBD

A

2/3 of the ff:

Parkinsonian syndrome (symmetric)
Fluctuations
Hallucinations

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21
Q

Selective serotonin inverse agonist used to treat psychosis in PD that has modest benefit in LBD

A

Pimavanserin

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22
Q

Triad of Huntington Disease

A

Dominant inheritance
Choreoatetosis
Dementia

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23
Q

Usual age of onset in HD?

A

4th to 5th decade

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24
Q

Affected gene, chromosome, and resultant abnormality in HD

A

Huntingtin gene
Chromosome 4
Long repeat of trinucleotide CAG

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25
Trye or false. Longer repeats of CAG leads to a later appearance of HD
False. Longer lengths = earlier appearance of HD
26
CAG repetitions in HD Normal median? Late onset? Invariably acquire the disease?
CAG repeats Median: 19 Late onset, mild HD: 35-39 Invariablu acquire the disease: > 42
27
The following are other clinical features of HD EXCEPT: ``` A) tongue darting B) decreased frequency of blinking C) impaired initiation and slowness of pursuit D) high suicide rate E) chronic SDH ```
B There is actually INCREASED frequency of blinking in HD. (Vs parkinsons: dec frequency)
28
Characteristic gross pathologic abnormality in HD?
Gross bilateral atrophy of the caudate nucleus head and putamen
29
Peak age of parkinsons disease?
6th decade
30
2 activities with associated protective effects on parkinsons?
Smoking | Coffee drinking
31
Clinical tetrad of parkinsons
1. Hypo-bradykinesia 2. Resting tremor 3. Postural instability 4. Rigidity Tremor (resting) Rigidity Akinesia Postural instability
32
What is the most common INITIAL symptom of patients with Parkinson Disease?
Tremor (70%)
33
What is the usual parkinsonian blink rate?
5-10/min | Normal 12-20/min
34
What is the Froment sign?
[Parkinson] Cogwheel effect from contralateral arm movements
35
What is the myerson sign?
[Parkinson] Inability to inhibit blinking in response to glabellar tap
36
What are lewy bodies?
Eosinophilic cytoplasmic inclusions surrounded by a faint halo
37
In PD, the earliest changes in the brain occur where?
Dorsal glossopharyngeal-vagal nuclei Anterior olfactory nuclei
38
[PD Genetics] Promote oligomerization of a-synuclein
SCNA (a-synuclein)
39
[PD Genetics] 50% of early-onset inherited PD 20% of sporadic early-onset cases
PARK2 (parkin)
40
[PD Genetics] Mitochondrial gene
PINK1 (PTEN-induced putative kinase 1)
41
[PD Genetics] Slow progressive gene. Plays role in cellular response to oxidative stress
PARK7 (DJ-1)
42
[PD Genetics] Ashkenazic Jews Protein also called dardarin Related to Gaucher disease
LRRK2 (leucine-rich repeat kinase 2)
43
[PD Genetics] Dystonia-parkinsonism Late onset
PLA2G6 (phospholipase A2)
44
True or False. Lewy bodies are not found in patients w/ most of the parkin mutations
True
45
[PD Genetics] Excess synuclein -> protofibrils Enhanced by defects in heat shock proteins and by dopamine
UCHL-1 (ubiquitin esterase)
46
PD medication that causes leg swelling, CHF, prostatic outlet obstruction, insomnia
Amantadine
47
PD medication particularly useful for tremor reduction
Anticholinergics | Benztropine, Trihexyphenidyl
48
PD medication used to prolong effect of L-dopa, w/ side effects of urine discoloration, diarrhea
Entacapone
49
PD medication used to reduce off time, with potential neuroprotection. SE: hypertensive crisis w/ tyramine-rich foods and sympathomimetics
MAO-inhibitors Rasagiline, Selegiline
50
Both Decarboxylase inhibitors and COMT inhibitors prolong half-life and duration of L-dopa effect. How do they differ in terms of MOA?
Decarboxylase inhibitor: increases bioavailability COMT inhibitor: prevents breakdown
51
PD medication that works through antagonism of NMDA/release of stored dopamine
Amantadine
52
DBS in PD utilizes lesions in which areas of the brain?
Subthalamic Nucleus (posterior, ventral medial parts) GPi
53
Which exercise is noted to improve balance and reduce falls in PD?
Tai Chi
54
Hot cross bun sign
MSA C
55
Most common type of MSA?
MSA-P | In Japan: MSA-C
56
Mutation in MSA?
COQ2
57
Histopathologic hallmark of MSA
Glial cytoplasmic inclusions that contain a-synuclein
58
Syndrome of progressive supranuclear palsy? (3)
Supranuclear ophthalmoplegia Pseudobulbar palsy Axial dystonia
59
Most common early complaint in PSP?
Gait unsteadiness, unexplained falling w/o LOC
60
Mouse ears configuration
PSP Atrophy of dorsal midbrain, axial view
61
Hummingbird sign
PSP Atrophy of dorsal midbrain, sagittal view
62
Most common early symptom of corticobasal degeneration
Asymmetrical clumsiness of the limbs with rigidity and tremor
63
Essential pathologic feature of CBD?
Neuronal achromasia - ballooned and chromatolytic neurons w/ eccentric nuclei - posterior frontal and parietal regions
64
DYT gene associated with adult onset dystonia parkinsonism
DYT 3
65
Genetic abnormality in Torsion Dystonia (Dystonia Musculorum Deformans)
DYT 1 / TOR1A, Chromosome 9q
66
Account for majority of inherited cases of GENERALIZED dystonia
DYT 1 mutations
67
Dystonia that is responsive to L-dopa
Segawa Syndrome | DYT 5
68
Gene implicated in Segawa Syndrome
GCH1 gene Synthesis of tetrahydrobiopterine (cofactor for tyrosine hydroxylase) Impaired generation of dopamine
69
Dystonia with diurnal variations
Segawa Syndrome
70
On Neuroacanthocytosis (Main Type) A) Median age at presentation? B) Chromosome and protein abnormality?
Median age: 32 years Chromosome 9q Protein: Chorein
71
Mutation in ALS
Superoxide Dismutase (SOD1)
72
Earliest manifestation (LMN component) of ALS
Volitional cramping
73
In ALS, what is the usual first onset clinical sx observed by the patient
Weakness in a distal part of one limb
74
How does the Mills variant of ALS present?
Spasticity -> amyotrophy on the arm and leg of the SAME side
75
Denervation must be demonstrated in at least __ limbs before concluding ALS
3
76
What is the diagnostic criterion for primary lateral sclerosis
3 year progression w/o evidence of LMN dysfunction
77
Drug that is shown to slow progression of ALS
Riluzole (antiglutamate)
78
Genetic abnormality in Spinal Muscular Atrophy
SMN1 gene
79
What protein determines severity and time of onset of disease in SMA?
SMN2 protein
80
Biopsy finding in SMA
Group atrophy
81
What is the pharmacologic treatment of SMA? MOA? And in which types of SMA is this effective?
Nusinersen (Antisense oligonucleotide) Modifies splicing of SMN2 For later onset SMA (2, 3)
82
Eponyms for SMA: Infantile Intermediate Juvenile
Infantile - Werdnig-Hoffman Intermediate - Dubowitz Juvenile - Kugelberg-Welander
83
Genetic abnormality in Kennedy Disease
CAG expansion in AR form that codes for the androgen receptor
84
First reported polyglutamine disease
Kennedy Disease
85
Pattern of inheritance for Leber Hereditary Optic Atrophy
Mitochondrial
86
Perception of which colors are initially affected in Leber Hereditary Optic Atrophy?
Blue, yellow
87
First symptom of Retinitis Pigmentosa
Nyctalopia
88
Dark choroid pattern
Stargardt Disease
89
Genetic abnormality in Friedreich Ataxia?
GAA trinucleotide repeat within FXN gene
90
Describe the gait in friedreich ataxia
Tabetocerebellar Gait Wide stance, constantly shifts position to maintain balance, static ataxia
91
Treatment for Friedreich Ataxia?
Ibedenone Antioxidant, reduces progression of LVH

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