Genes etc

Question 1

CACN1A4

Answer 1

Episodic Ataxia II AND familial hemiplegic migraine

Question 2

GAA repeat chr 9

Answer 2

Frataxin, Fredrich’s ataxia

Question 3

ATM chr 11

Answer 3

Ataxia teleangectasia, impaired DNA repair

Question 4

CAG repeat chr 14

Answer 4

Spinocerebellar ataxia type 3

Question 5

CGG repeat on FMR 1 chrX

Answer 5

Fragile X syndrome

Question 6

NEU1 on chr6p21.3

Answer 6

sialidosis — cherry red spot and PME

Question 7

Defect in 27-sterol hydroxylase on chr2

Answer 7

Cerebrotendinous xanthomatosis — check serum cholestanol

Question 8

NOTCH3, chr19

Answer 8

CADASIL

Question 9

Chr17q21

Answer 9

FTD

Question 10

CAG repeat on chr4

Answer 10

Huntington’s

Question 11

ATP7B on chr 13

Answer 11

Wilson’s

Question 12

LRRK2

Answer 12

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

Question 13

APP, chr21

Answer 13

ALzheimer’s

Question 14

Torsin A, DYT1, chr9

Answer 14

Primary generalized dystonia

Question 15

DYT3

Answer 15

X-linked dystonia-parkinsonism (Filipinos?)

Question 16

CACNA1A, chr19p13

Answer 16

FHM1 (AD)

Question 17

DYT5, chr14

Answer 17

Dopa-responsive dystonia (young girls, diurnal)

Question 18

KCN1A (facial twitching)

Answer 18

Episodic ataxia 1 (+facial twitching)

Question 19

autoimmune: anti-glutamic acid dehydrogenase (GAD)

Answer 19

Stiff person syndrome

Question 20

paraneoplastic: anti-amphiphysin

Answer 20

Stiff person syndrome

Question 21

CAG repeat on chr12

Answer 21

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

Question 22

MECP2

Answer 22

Rett syndrome, X-linked, fatal in boys

Question 23

HLA-DQB1*06:02

Answer 23

Narcolepsy

Question 24

LGl-1

Answer 24

autosomal dominant partial epilepsy with auditory features (ADPEAF)

Question 25

CNRNA4

Answer 25

familial frontal lobe epilepsy

Question 26

SCN1A

Answer 26

Febrile seizues, Dravet, FHM3

Question 27

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

Answer 27

SCN4A

Question 28

CLCN1

Answer 28

Myotonia congentia, worsens with stillness and improves with movement

Question 29

KCNQ2

Answer 29

benign familial neonatal epilepsy

Question 30

anti-GM1

Answer 30

AIDP, multifocal motor neuropathy

Question 31

anti-GQ1b antibodies

Answer 31

Miller Fisher (ataxia, ophthalmoparesis and areflexia)

Question 32

PMP22 chr17 duplication

Answer 32

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

Question 33

PMP22 deletion

Answer 33

Hereditary neuropathy with pressure palsies (AD)

Question 34

glycine receptor alpha-1 gene (GLRA-1)

Answer 34

Hereditary hyperekplexia

Question 35

ryanodine receptor (RYR) mutation

Answer 35

Limb-girdle muscular dystrophy AND malignant hyperthermia

Question 36

mitochondrial MT-TL1 mutation

Answer 36

MELAS

Question 37

CACNA1S

Answer 37

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

Question 38

SOD1

Answer 38

Familial ALS

Question 39

KCNT1

Answer 39

Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)

Question 40

associated with anti-Hu and anti-Ri antibodies

Answer 40

Opsoclonus myoclonus syndrome, paraneoplastic or in Peds related to neuroblastoma

Question 41

Anti-yo

Answer 41

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

Question 42

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

Answer 42

DM2 myotonic dystrophy (cataracts, cardiac involvement)

Question 43

Fukutin gene on chr9q

Answer 43

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

Question 44

CTG expansion in the myotonic dystrophy protein kinase gene on chr19q

Answer 44

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

Question 45

LAMA2

Answer 45

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

Question 46

anti-Ma2 autoantibodies

Answer 46

Limbic encephalitis, associated with testicular cancer

Question 47

KIAA1549-BRAF gene fusions

Answer 47

Pilocytic astrocytomas

Question 48

Anti-TIF1

Answer 48

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