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Neuro boards > Genes etc > Flashcards

Genes etc Flashcards

1
Q

CACN1A4

A

Episodic Ataxia II AND familial hemiplegic migraine

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2
Q

GAA repeat chr 9

A

Frataxin, Fredrich’s ataxia

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3
Q

ATM chr 11

A

Ataxia teleangectasia, impaired DNA repair

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4
Q

CAG repeat chr 14

A

Spinocerebellar ataxia type 3

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5
Q

CGG repeat on FMR 1 chrX

A

Fragile X syndrome

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6
Q

NEU1 on chr6p21.3

A

sialidosis — cherry red spot and PME

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7
Q

Defect in 27-sterol hydroxylase on chr2

A

Cerebrotendinous xanthomatosis — check serum cholestanol

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8
Q

NOTCH3, chr19

A

CADASIL

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9
Q

Chr17q21

A

FTD

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10
Q

CAG repeat on chr4

A

Huntington’s

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11
Q

ATP7B on chr 13

A

Wilson’s

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12
Q

LRRK2

A

Leucine-rich repeat kinase 2, AD, familial Parkinson’s

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13
Q

APP, chr21

A

ALzheimer’s

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14
Q

Torsin A, DYT1, chr9

A

Primary generalized dystonia

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15
Q

DYT3

A

X-linked dystonia-parkinsonism (Filipinos?)

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16
Q

CACNA1A, chr19p13

A

FHM1 (AD)

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17
Q

DYT5, chr14

A

Dopa-responsive dystonia (young girls, diurnal)

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18
Q

KCN1A (facial twitching)

A

Episodic ataxia 1 (+facial twitching)

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19
Q

autoimmune: anti-glutamic acid dehydrogenase (GAD)

A

Stiff person syndrome

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20
Q

paraneoplastic: anti-amphiphysin

A

Stiff person syndrome

21
Q

CAG repeat on chr12

A

Dentatorubral-pallidoluysian atrophy // AD // Asian in 40s/50s

22
Q

MECP2

A

Rett syndrome, X-linked, fatal in boys

23
Q

HLA-DQB1*06:02

A

Narcolepsy

24
Q

LGl-1

A

autosomal dominant partial epilepsy with auditory features (ADPEAF)

25
Q

CNRNA4

A

familial frontal lobe epilepsy

26
Q

SCN1A

A

Febrile seizues, Dravet, FHM3

27
Q

Periodic paralysis, myotonia, paramyotonia congenital (worsen with cold and movement)

A

SCN4A

28
Q

CLCN1

A

Myotonia congentia, worsens with stillness and improves with movement

29
Q

KCNQ2

A

benign familial neonatal epilepsy

30
Q

anti-GM1

A

AIDP, multifocal motor neuropathy

31
Q

anti-GQ1b antibodies

A

Miller Fisher (ataxia, ophthalmoparesis and areflexia)

32
Q

PMP22 chr17 duplication

A

Charcot Marie Tooth type 1A; distal atrophy, hporeflexia and arched feet; onion bulb path

33
Q

PMP22 deletion

A

Hereditary neuropathy with pressure palsies (AD)

34
Q

glycine receptor alpha-1 gene (GLRA-1)

A

Hereditary hyperekplexia

35
Q

ryanodine receptor (RYR) mutation

A

Limb-girdle muscular dystrophy AND malignant hyperthermia

36
Q

mitochondrial MT-TL1 mutation

A

MELAS

37
Q

CACNA1S

A

Hypokalemic periodic paralysis (triggered by large carbohydrate meals, salt, insulin, steroids, and rest after exercise)

38
Q

SOD1

A

Familial ALS

39
Q

KCNT1

A

Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)

40
Q

associated with anti-Hu and anti-Ri antibodies

A

Opsoclonus myoclonus syndrome, paraneoplastic or in Peds related to neuroblastoma

41
Q

Anti-yo

A

associated with cerebellar encephalitis, a paraneoplastic syndrome linked to small-cell lung cancer.

42
Q

CCGT repeat expansion on zinc finger protein9, chr.3q

A

DM2 myotonic dystrophy (cataracts, cardiac involvement)

43
Q

Fukutin gene on chr9q

A

Hypnotic baby with leg contractors, Fukuyama-Fukuyama-the muscular dystrophy

44
Q

CTG expansion in the myotonic dystrophy protein kinase gene on chr19q

A

DM1 myotonic dystrophy, with frontal balding, mass ester and temporals

45
Q

LAMA2

A

Merosin-deficient CMD, Diffuse T2 FLAIR white matter hyperintensities but normal intelligence. Seizures are common.

46
Q

anti-Ma2 autoantibodies

A

Limbic encephalitis, associated with testicular cancer

47
Q

KIAA1549-BRAF gene fusions

A

Pilocytic astrocytomas

48
Q

Anti-TIF1

A

Higher cancer risk in dermatomyositis (anti-me is good)

Neuro boards (3 decks)

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