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Amy's Updated Board Exam Deck > Week 5: Neurogenetics > Flashcards

Week 5: Neurogenetics Flashcards

1
Q

Inheritance of HD

A

AD

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2
Q

Trinucleotide repeat in HD

A

CAG

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3
Q

3 major features of HD

A

Psych, Movement, Cognitive

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4
Q

How many CAG repeats for full mutation in HD

A

40 or more

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5
Q

How many CAG repeats for a reduced penetrance mutation in HD

A

36-39

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6
Q

Anticipation in HD is more likely if passed through mom or dad?

A

Dad

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7
Q

Is genetic testing of minors recommended for HD?

A

No

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8
Q

Should prenatal testing for HD be performed on fetus if parents have no plans to end the pregnancy if positive?

A

No

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9
Q

Characteristic pathology in brain of person with AD

A

Amyloid plaques and neurofibrillary tangles

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10
Q

What is the biggest risk factor for AD?

A

Increasing age

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11
Q

What is the inheritance of early-onset AD?

A

AD

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12
Q

What 3 genes are implicated in autosomal dominant AD?

A

APP, PSEN1, PSEN2

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13
Q

What is a genetic risk factor for AD?

A

APOE4

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14
Q

APOE4 is associated with an increased risk for

A

Alzheimer’s disease and cardiovascular disease

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15
Q

Is APOE predictive testing currently recommended?

A

No

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16
Q

Characteristic brain pathology in a person with Parkinson’s disease

A

Lewy bodies

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17
Q

4 main features of Parkinson’s disease

A

Tremor, rigidity, bradykinesia, postural instability

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18
Q

3 genes in AR Parkinson’s disease

A

PARK2, PINK1, DJ-1

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19
Q

3 main genes in AD Parkinson’s disease

A

SNCA, LRRK2, GBA

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20
Q

Inheritance of FTD

A

AD

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21
Q

3 genes associated with FTD

A

C9orf72, MAPT, GRN

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22
Q

Mutation in C9orf72

A

GGGGCC; > 30 repeats

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23
Q

3 main genes associated with ALS

A

SOD1, FUS, C9orf72

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24
Q

Inheritance of DMD/BMD

A

XLR

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25
Gene of DMD/BMD
DMD
26
Out-of-frame deletions in DMD are seen in ____ and in-frame deletions in DMD are seen in ______.
DMD; BMD
27
What is the progression of muscle weakness in DMD/BMD
Proximal to Distal
28
Other than muscle weakness and wasting, what is another common feature in DMD/BMD
Cardiomyopathy
29
How do you do testing for BMD/DMD
First: test for exotic deletion; Second: full dystrophin gene sequencing
30
Inheritance of Limb Girdle Muscular Dystrophy
AR
31
Clinical features of Limb Girdle Muscular Dystrophy are similar to
DMD/BMD
32
Inheritance of myotonic dystrophy type 1
AD
33
What trinucleotide repeat is expanded in myotonic dystrophy
CTG
34
What number of CTG repeats are needed for classic myotonic dystrophy mutation
100-1000 repeats
35
5 major features of myotonic dystrophy type 1
Myotonia, cataracts, arrhythmias, endocrine problems, LDs to ID
36
Inheritance of myotonic dystrophy type 2
AD
37
What is the mutation in myotonic dystrophy type 2
Tetranucleotide repeat: CCTG
38
5 major features of myotonic dystrophy type 2
Myotonia, cataracts, arrhythmias, endocrine problems, LDs to ID
39
Inheritance of Merosin Deficient CMD
AR
40
3 major features of Merosin-Deficient CMD
Severe hypotonia, mild neuropathy, white matter changes on MRI (also SUPER high CK)
41
Inheritance of Ullrich CMD
AR
42
4 major features of Ullrich CMD
Hypotonia/weakness, hip dislocation and skeletal problems, skin problems, lung-early respiratory compromise
43
Inheritance of Walker-Warburg Syndrome
AR
44
3 major features of Walker-Warburg Syndrome
Muscle- weakness, Brain- lissenecephaly, eye- severe eye malformations
45
Inheritance of Muscle-Eye-Brain Disease
AR
46
3 major features of Muscle-Eye-Brain Disease
Muscle- neonatal hypotonia, Eye- high myopia, Brain- lishencephaly
47
Inheritance of Fukuyama CMD
AR
48
4 major features of Fukuyama CMD
Muscle- weakness, Brain- lishencephaly, Eye- optic nerve hypoplasia, Heart- cardiomyopathy
49
Inheritance of FSHD
AD
50
Mutation in FSHD
Contraction of D4Z4 (1-10 units)
51
Inheritance of Bethlem Myopathy
AD
52
3 major features of Bethlem myopathy
Congenital joint contractures, initial joint hypermobility, restrictive lung disease
53
Inheritance of Nemaline myopathy
AR
54
3 major features of Nemaline myopathy
Muscle weakness, dysphagia, diaphragmatic involvement
55
Inheritance of Central core disease
AD
56
65-75% of patients with central core disease have
Malignant hyperthermia
57
Inheritance of Pompe disease
AR
58
3 major features of Pompe disease
Distal weakness, fatigue, muscle cramps
59
Treatment for Pompe
ERT
60
Inheritance of Congenital Myasthenic Syndrome
AR
61
3 major features of Congenital Myasthenic Syndrome
Fatigable weakness- ocular, bulbar, limb muscles, no cardiac, no cognitive
62
Inheritance of SMA
AR
63
Gene in SMA
SMN1
64
What is the most common mutation in SMA
Deletion of exon 7
65
First line test for SMA
DNA testing
66
What milestones are met with SMA1
No sitting or walking
67
What milestrones are met with SMA2
Sitting, no walking
68
What milestones are met with SMA3
Walking
69
What milestones are met with SMA4
Normal
70
What is the inheritance of CMT1 and CMT2
AD
71
What is the inheritance of CMT4
AR
72
What is the inheritance of CMTX
XL
73
3 major features of CMT
Distal muscle atrophy and weakness; abnormal sensation; drop-foot gait

Amy's Updated Board Exam Deck (30 decks)

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