Tüm Alt Tipler (Sca)

HEREDITARY ATAXIAS: DOMINANT 

Spinocerebellar Ataxia (SCA)

1: Ataxin-1; CAG repeat; 6p22

2: Ataxin-2; CAG repeat; 12q24

3: Ataxin-3; CAG repeat; 14q32

4: ZFHX3; GGC repeat; 16q22

5: β-III Spectrin; 11q13

6: CACNA1A; CAG repeat; 19p13

7: Ataxin-7; CAG repeat; 3p21

8: ATXN8OS; CTG repeat; 13q21

9: ?

10: ATXN10; ATTCT repeat; 22q13

11: TTBK2; 15q14

12: PPP2R2B; CAG repeat; 5q31

13: KCNC3; 19q13.33

14: PRKCG; 19q13.42

15, 16, 29: ITPR1; 3p26

17: TBP; CAG repeat; 6q27

18: 7q31

19: KCND3; 1p13

20: 11q12, Duplication

21: TMEM240; 1p36

22: KCND3; 1p13

23: PDYN; 20p13

25: PNPT1; 2p16

26: EEF2; 19p13

27: FGF14; 13q33

28: AFG3L2; 18p11

30: 4q34

31: BEAN1; TGGAA repeat; 16q22

32: 7q32

34: ELOVL4; 6q14

35: TGM6; 20p13

36: NOP56; 20p13

37: DAB1; 1p32

38: ELOVL5; 6p12

39: 11q21

40: CCDC88C; 14q32

41: TRPC3; 4q27

42: CACNA1G; 17q21

43: MME; 3q25

44: GRM1; 6q24

45: FAT2; 5q32

46: PLD3; 19q13

47: PUM1; 1p35

48: STUB1; 16p13

49: SAM9DL; 7q21

50: NPTX1; 17q25

51: THAP11: 16q22

52: RAB3A: 19p13

SLC1A3; 5p13

SCA: Differential features

Dominant ataxia syndromes, Other

Ataxia + Epilepsy: KCNA2; 1p13

CANPMR: CAMTA1; 1p36

CAPOS: ATP1A3; 19q13

Cerebral Palsy

CIAT: SCN8A

Congenital ataxia

Cough, Spasmodic

Deafness & Narcolepsy: DNMT1; 19p13

DRPLA: ATN1; CAG repeat; 12p13

DYT28: KMT2B; 19q13

Familial dementia: ITM2B; 13q14

Gillespie: PAX6; 11p13

HADDS: EBF3; 10q26

HADDTS: CTBP1; 4p16

Hemiplegia, alternating: 1; 2

Holmes ataxia

Huntington 2: JPH3; CAG/CTG repeat; 16q23

Leukodystrophy

  Adult-onset: Lamin B1; 5q23

  H-ABC (HLD6): TUBB4A; 19p13

Multiple hamartoma syndrome: PTEN; 10q23

Myasthenia + CNS: SNAP25b; 20p12

Myelocerebellar: SAMD9L; 7q21

Myoclonic epilepsy

  KCNA2; 1p13

  MEAK: KCNC1; 11p15

Myoclonus

  Cortical: NOL3; 16q22

  Branchial & Spasticity: GFAP; 17q21

  Episodic ataxia + Epilepsy: SCN2A; 2q24

Neurodevelopmental

  Ataxia+: CAPRIN1; 11p13

  NDCCA: ATP6V0C

  NEDLAS: GRIK2; 6q16

Neuronal intranuclear inclusion disease

Nystagmus

Parenchymal degeneration

Peripheral Neuropathy

  CMT 1F: NFL

  Rigidity

  Saccades slow + Orthostatism

  SANDO: POLG1; 15q25

  Sensory ataxia: 16q22

  Sensory-Motor: IFRD1; 7q22

  Thermoanalgesia & Fungiform papillae loss

Prion disease: Prion protein; 20p12

Seizures

  GLUT1DS2: SLC2A1; 1p35

  MRD55: NUS1; 6q22

SMEI (Dravet; EIEE6): SCN1A; 2q24

SPAR

Spastic ataxia syndromes

Tremor, Essential: 3q13

TUBA4A

Vanishing white matter

Vermal aplasia

Von Hippel-Lindau: VHL protein; 3p26