Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

🧠📖💯 > Degenerative > Flashcards

Degenerative Flashcards

1
Q

What type of memory is affected in Alzheimers?

A

Episodic memory

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

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

A

5%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

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

A

Executive dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

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

A

Neurofibrillary Tangles

And quantitative neuronal loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

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

A

AB42:AB40

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

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

A

Chromosome 21

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are presenilin 1 and 2?

A

Endosomal proteins w/ are catalytic components of y secretase.

Mutations -> inc ab42

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

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

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

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

A

APP
PS1
PS2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Which gene modifies susceptibility to Alzheimers Disease?

A

Apo E

E-4 allele: risk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Which allele is underrepresented among AD patients?

A

E2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

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

A

TREM2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

UBQLN1 (Ubiquilin 1)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Which antipsychotic is “slightly preferable” in AD?

A

Olanzapine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Main compinent of lewy bodies

A

a-synuclein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Diagnostic criteria for LBD

A

2/3 of the ff:

Parkinsonian syndrome (symmetric)
Fluctuations
Hallucinations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

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

A

Pimavanserin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Triad of Huntington Disease

A

Dominant inheritance
Choreoatetosis
Dementia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Usual age of onset in HD?

A

4th to 5th decade

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Affected gene, chromosome, and resultant abnormality in HD

A

Huntingtin gene
Chromosome 4
Long repeat of trinucleotide CAG

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Trye or false. Longer repeats of CAG leads to a later appearance of HD

A

False. Longer lengths = earlier appearance of HD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

CAG repetitions in HD

Normal median?
Late onset?
Invariably acquire the disease?

A

CAG repeats

Median: 19
Late onset, mild HD: 35-39
Invariablu acquire the disease: > 42

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

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
A

B

There is actually INCREASED frequency of blinking in HD. (Vs parkinsons: dec frequency)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Characteristic gross pathologic abnormality in HD?

A

Gross bilateral atrophy of the caudate nucleus head and putamen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Peak age of parkinsons disease?

A

6th decade

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

2 activities with associated protective effects on parkinsons?

A

Smoking

Coffee drinking

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Clinical tetrad of parkinsons

A
  1. Hypo-bradykinesia
  2. Resting tremor
  3. Postural instability
  4. Rigidity

Tremor (resting)
Rigidity
Akinesia
Postural instability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the most common INITIAL symptom of patients with Parkinson Disease?

A

Tremor (70%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the usual parkinsonian blink rate?

A

5-10/min

Normal 12-20/min

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What is the Froment sign?

A

[Parkinson]

Cogwheel effect from contralateral arm movements

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What is the myerson sign?

A

[Parkinson]

Inability to inhibit blinking in response to glabellar tap

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are lewy bodies?

A

Eosinophilic cytoplasmic inclusions surrounded by a faint halo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

In PD, the earliest changes in the brain occur where?

A

Dorsal glossopharyngeal-vagal nuclei

Anterior olfactory nuclei

38
Q

[PD Genetics]

Promote oligomerization of a-synuclein

A

SCNA (a-synuclein)

39
Q

[PD Genetics]

50% of early-onset inherited PD

20% of sporadic early-onset cases

A

PARK2 (parkin)

40
Q

[PD Genetics]

Mitochondrial gene

A

PINK1 (PTEN-induced putative kinase 1)

41
Q

[PD Genetics]

Slow progressive gene.

Plays role in cellular response to oxidative stress

A

PARK7 (DJ-1)

42
Q

[PD Genetics]

Ashkenazic Jews
Protein also called dardarin
Related to Gaucher disease

A

LRRK2 (leucine-rich repeat kinase 2)

43
Q

[PD Genetics]

Dystonia-parkinsonism
Late onset

A

PLA2G6 (phospholipase A2)

44
Q

True or False. Lewy bodies are not found in patients w/ most of the parkin mutations

A

True

45
Q

[PD Genetics]

Excess synuclein -> protofibrils
Enhanced by defects in heat shock proteins and by dopamine

A

UCHL-1 (ubiquitin esterase)

46
Q

PD medication that causes leg swelling, CHF, prostatic outlet obstruction, insomnia

A

Amantadine

47
Q

PD medication particularly useful for tremor reduction

A

Anticholinergics

Benztropine, Trihexyphenidyl

48
Q

PD medication used to prolong effect of L-dopa, w/ side effects of urine discoloration, diarrhea

A

Entacapone

49
Q

PD medication used to reduce off time, with potential neuroprotection.

SE: hypertensive crisis w/ tyramine-rich foods and sympathomimetics

A

MAO-inhibitors

Rasagiline, Selegiline

50
Q

Both Decarboxylase inhibitors and COMT inhibitors prolong half-life and duration of L-dopa effect. How do they differ in terms of MOA?

A

Decarboxylase inhibitor: increases bioavailability

COMT inhibitor: prevents breakdown

51
Q

PD medication that works through antagonism of NMDA/release of stored dopamine

A

Amantadine

52
Q

DBS in PD utilizes lesions in which areas of the brain?

A

Subthalamic Nucleus (posterior, ventral medial parts)

GPi

53
Q

Which exercise is noted to improve balance and reduce falls in PD?

A

Tai Chi

54
Q

Hot cross bun sign

A

MSA C

55
Q

Most common type of MSA?

A

MSA-P

In Japan: MSA-C

56
Q

Mutation in MSA?

A

COQ2

57
Q

Histopathologic hallmark of MSA

A

Glial cytoplasmic inclusions that contain a-synuclein

58
Q

Syndrome of progressive supranuclear palsy? (3)

A

Supranuclear ophthalmoplegia
Pseudobulbar palsy
Axial dystonia

59
Q

Most common early complaint in PSP?

A

Gait unsteadiness, unexplained falling w/o LOC

60
Q

Mouse ears configuration

A

PSP

Atrophy of dorsal midbrain, axial view

61
Q

Hummingbird sign

A

PSP

Atrophy of dorsal midbrain, sagittal view

62
Q

Most common early symptom of corticobasal degeneration

A

Asymmetrical clumsiness of the limbs with rigidity and tremor

63
Q

Essential pathologic feature of CBD?

A

Neuronal achromasia

  • ballooned and chromatolytic neurons w/ eccentric nuclei
  • posterior frontal and parietal regions
64
Q

DYT gene associated with adult onset dystonia parkinsonism

A

DYT 3

65
Q

Genetic abnormality in Torsion Dystonia (Dystonia Musculorum Deformans)

A

DYT 1 / TOR1A, Chromosome 9q

66
Q

Account for majority of inherited cases of GENERALIZED dystonia

A

DYT 1 mutations

67
Q

Dystonia that is responsive to L-dopa

A

Segawa Syndrome | DYT 5

68
Q

Gene implicated in Segawa Syndrome

A

GCH1 gene

Synthesis of tetrahydrobiopterine (cofactor for tyrosine hydroxylase)
Impaired generation of dopamine

69
Q

Dystonia with diurnal variations

A

Segawa Syndrome

70
Q

On Neuroacanthocytosis (Main Type)

A) Median age at presentation?
B) Chromosome and protein abnormality?

A

Median age: 32 years

Chromosome 9q
Protein: Chorein

71
Q

Mutation in ALS

A

Superoxide Dismutase (SOD1)

72
Q

Earliest manifestation (LMN component) of ALS

A

Volitional cramping

73
Q

In ALS, what is the usual first onset clinical sx observed by the patient

A

Weakness in a distal part of one limb

74
Q

How does the Mills variant of ALS present?

A

Spasticity -> amyotrophy on the arm and leg of the SAME side

75
Q

Denervation must be demonstrated in at least __ limbs before concluding ALS

A

3

76
Q

What is the diagnostic criterion for primary lateral sclerosis

A

3 year progression w/o evidence of LMN dysfunction

77
Q

Drug that is shown to slow progression of ALS

A

Riluzole (antiglutamate)

78
Q

Genetic abnormality in Spinal Muscular Atrophy

A

SMN1 gene

79
Q

What protein determines severity and time of onset of disease in SMA?

A

SMN2 protein

80
Q

Biopsy finding in SMA

A

Group atrophy

81
Q

What is the pharmacologic treatment of SMA?
MOA?
And in which types of SMA is this effective?

A

Nusinersen (Antisense oligonucleotide)

Modifies splicing of SMN2

For later onset SMA (2, 3)

82
Q

Eponyms for SMA:

Infantile
Intermediate
Juvenile

A

Infantile - Werdnig-Hoffman
Intermediate - Dubowitz
Juvenile - Kugelberg-Welander

83
Q

Genetic abnormality in Kennedy Disease

A

CAG expansion in AR form that codes for the androgen receptor

84
Q

First reported polyglutamine disease

A

Kennedy Disease

85
Q

Pattern of inheritance for Leber Hereditary Optic Atrophy

A

Mitochondrial

86
Q

Perception of which colors are initially affected in Leber Hereditary Optic Atrophy?

A

Blue, yellow

87
Q

First symptom of Retinitis Pigmentosa

A

Nyctalopia

88
Q

Dark choroid pattern

A

Stargardt Disease

89
Q

Genetic abnormality in Friedreich Ataxia?

A

GAA trinucleotide repeat within FXN gene

90
Q

Describe the gait in friedreich ataxia

A

Tabetocerebellar Gait

Wide stance, constantly shifts position to maintain balance, static ataxia

91
Q

Treatment for Friedreich Ataxia?

A

Ibedenone

Antioxidant, reduces progression of LVH

🧠📖💯 (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions