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x_NeuroGenetics Review > Basic Neurogenetics: Genes & Inheritance Patterns > Flashcards

Basic Neurogenetics: Genes & Inheritance Patterns 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
Q

Gene of DMD/BMD

A

DMD

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26
Q

Out-of-frame deletions in DMD are seen in ____ and in-frame deletions in DMD are seen in ______.

A

DMD; BMD

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27
Q

What is the progression of muscle weakness in DMD/BMD

A

Proximal to Distal

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28
Q

Other than muscle weakness and wasting, what is another common feature in DMD/BMD

A

Cardiomyopathy

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29
Q

How do you do testing for BMD/DMD

A

First: test for exotic deletion; Second: full dystrophin gene sequencing

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30
Q

Inheritance of Limb Girdle Muscular Dystrophy

A

AR

31
Q

Clinical features of Limb Girdle Muscular Dystrophy are similar to

A

DMD/BMD

32
Q

Inheritance of myotonic dystrophy type 1

A

AD

33
Q

What trinucleotide repeat is expanded in myotonic dystrophy

A

CTG

34
Q

What number of CTG repeats are needed for classic myotonic dystrophy mutation

A

100-1000 repeats

35
Q

5 major features of myotonic dystrophy type 1

A

Myotonia, cataracts, arrhythmias, endocrine problems, LDs to ID

36
Q

Inheritance of myotonic dystrophy type 2

A

AD

37
Q

What is the mutation in myotonic dystrophy type 2

A

Tetranucleotide repeat: CCTG

38
Q

5 major features of myotonic dystrophy type 2

A

Myotonia, cataracts, arrhythmias, endocrine problems, LDs to ID

39
Q

Inheritance of Merosin Deficient CMD

A

AR

40
Q

3 major features of Merosin-Deficient CMD

A

Severe hypotonia, mild neuropathy, white matter changes on MRI (also SUPER high CK)

41
Q

Inheritance of Ullrich CMD

A

AR

42
Q

4 major features of Ullrich CMD

A

Hypotonia/weakness, hip dislocation and skeletal problems, skin problems, lung-early respiratory compromise

43
Q

Inheritance of Walker-Warburg Syndrome

A

AR

44
Q

3 major features of Walker-Warburg Syndrome

A

Muscle- weakness, Brain- lissenecephaly, eye- severe eye malformations

45
Q

Inheritance of Muscle-Eye-Brain Disease

A

AR

46
Q

3 major features of Muscle-Eye-Brain Disease

A

Muscle- neonatal hypotonia, Eye- high myopia, Brain- lishencephaly

47
Q

Inheritance of Fukuyama CMD

A

AR

48
Q

4 major features of Fukuyama CMD

A

Muscle- weakness, Brain- lishencephaly, Eye- optic nerve hypoplasia, Heart- cardiomyopathy

49
Q

Inheritance of FSHD

A

AD

50
Q

Mutation in FSHD

A

Contraction of D4Z4 (1-10 units)

51
Q

Inheritance of Bethlem Myopathy

A

AD

52
Q

3 major features of Bethlem myopathy

A

Congenital joint contractures, initial joint hypermobility, restrictive lung disease

53
Q

Inheritance of Nemaline myopathy

A

AR

54
Q

3 major features of Nemaline myopathy

A

Muscle weakness, dysphagia, diaphragmatic involvement

55
Q

Inheritance of Central core disease

A

AD

56
Q

65-75% of patients with central core disease have

A

Malignant hyperthermia

57
Q

Inheritance of Pompe disease

A

AR

58
Q

3 major features of Pompe disease

A

Distal weakness, fatigue, muscle cramps

59
Q

Treatment for Pompe

A

ERT

60
Q

Inheritance of Congenital Myasthenic Syndrome

A

AR

61
Q

3 major features of Congenital Myasthenic Syndrome

A

Fatigable weakness- ocular, bulbar, limb muscles, no cardiac, no cognitive

62
Q

Inheritance of SMA

A

AR

63
Q

Gene in SMA

A

SMN1

64
Q

What is the most common mutation in SMA

A

Deletion of exon 7

65
Q

First line test for SMA

A

DNA testing

66
Q

What milestones are met with SMA1

A

No sitting or walking

67
Q

What milestrones are met with SMA2

A

Sitting, no walking

68
Q

What milestones are met with SMA3

A

Walking

69
Q

What milestones are met with SMA4

A

Normal

70
Q

What is the inheritance of CMT1 and CMT2

A

AD

71
Q

What is the inheritance of CMT4

A

AR

72
Q

What is the inheritance of CMTX

A

XL

73
Q

3 major features of CMT

A

Distal muscle atrophy and weakness; abnormal sensation; drop-foot gait

x_NeuroGenetics Review (38 decks)

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