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HEREDITARY ATAXIA: RECESSIVE, CONGENITAL & X-LINKED


Recessive ataxia syndromes
  ARCA
    1 (SCAR8): SYNE1; 6q25
    2 (SCAR9): CABC1; 1q42
    Retardation (SCAR11): SYT14; 1q32
  Ataxia +
    Epilepsy
      Eye disorders: COL18A1; 21q22
      Mental retardation
        SCAR12: WWOX; 16q23
        SCAR15: KIAA0226; 3q29
        SCAR: TDP2; 6p22
      Myoclonus
        Progressive: GOSR2; 17q21
        Progressive 2: PRICKLE1; 12q12
        Unverricht-Lundborg: Cystatin B; 21q22
        Demyelinating PN: SCARB2; 4q21
        Opsoclonus-Myoclonus: KCTD7; 7q11
    Motor Neuropathy
      SCAR10: ANO10; 3p22
      PEX10; 1p36
    Neuropathy (SCAN1): TDP1; 14q31
    Upgaze palsy
  Ataxia-Oculomotor Apraxia
    AOA1: Aprataxin; 9p21
    AOA2 (SCAR1): Senataxin; 9q34
    AOA3: PIK3R5; 17p13
    AOA: GRID2; 4q22
    PCH1B: EXOSC3; 9p13
    Ataxia & Cysts: LAMA1; 18p11
    Dominant
  Ataxia telangectasia (AT)
    AT: ATM; 11q22
    AT-like 1 (ATLD1): MRE11; 11q21
    AT-like 2 (ATLD2): PCNA; 20p12

  CANVAS
  Cardiac, dilated + Ataxia: DNAJC19; 3q26
  Cayman ataxia: ATCAY; 19p13
  Cerebelloparenchymal disorders (CPD)
    II, III, IV, V
  Charlevoix-Saguenay: Sacsin; 13q12
  Childhood onset (SCAR7): TPP1; 11p15
  Cockayne Syndrome A ERCC8; 5q12
  Cockayne Syndrome B ERCC6; 10q11
  Coenzyme Q10 deficiency: Aprataxin; 9p13
  Cough
  Cytochrome c Oxidase I: Mitochondrial
  EOCA + Retained reflexes: 13q12
  Friedreich ataxia (FRDA)
    1: Frataxin; 9q21
    2: 9p23
  Deafness & Optic atrophy (SCAR3): 6p21
  Hypogonadism
  Infant onset (IOSCA): Ataxia +
    CNS & PN: Twinkle; 10q24
    Psychomotor (SCAR14): SPTBN2; 11q13
  Joubert
  Karak: PLA2G6; 22q13
  Laryngeal paralysis & Motor neuropathy
  Leukoencephalopathy
    LBSL: DARS2; 1q25
    LKENP: AARS2; 6p21
    LKPAT: CLCN2; 3q27
    Vanishing white matter
  Macular dystrophy
  Marinesco-Sjögren: SIL1; 5q31
  MIRAS: POLG1; 15q25
  Myopathy & Movement: TRAPPC11; 4q35

  PCARP: 1q31
  PHARC: ABHD12; 20p11
  Portneuf spastic ataxia: MARS2; 2q33
  Retinal degeneration: ACO2; 2q13
  Saccadic intrusions (SCAR4): 1p36
  Salla (Sialic acid storage): SLC17A5; 6q13
  SANDO: POLG1; 15q25
  SeSAME: KCNJ10; 1q23
  Slow eye movements
  TACH (4H): POLR3A; 10q22
  Thalamic lesions & Adult onset ataxia
  Vitamin E deficient: ATTP; 8q12
  Xeroderma pigmentosum

SCAR
  1 (AOA2): Senataxin; 9q34
  2 (Cerebellar ataxia 1): 9q34
  3 (Hearing loss & OA): 6p21
  4 (Saccadic intrusions): 1p36
  5 (CAMOS): 15q24
  6 (Cerebellar ataxia 3): 20q11
  7 (Childhood): TPP1; 11p15
  8 (ARCA1): SYNE1; 6q25
  9 (ARCA2): CABC1; 1q42
  10 (Ataxia + Motor PN): ANO10; 3p22
  11 (ARCA + MR): SYT14; 1q32
  12 (Epilepsy + MR): WWOX; 16q23
  13: GRM1; 6q24
  14: SPTBN2; 11q13
  15: KIAA0226; 3q29
  16: STUB1; 16p13
X-linked ataxias
  Arts Syndrome
  CLA2
  Congenital
  Extrapyramidal disorders
 
Mental retardation-Epilepsy: SLC9A6
  Pelizaeus-Merzbacher allelic variant: PLP
  Pyruvate dehydrogenase E1-α
  Rett syndrome: MECP2
  SCAX4
  Sideroblastic anemia: ABC7
  Tremor & Cognitive decline: FMR1; Xq27

Congenital ataxias

Metabolic ataxias

Other ataxia syndromes
  Dominant
  X-linked
  Congenital
  DNA repair defects
  Metabolic disorders
  Mitochondrial
  Multisystem disorders
  Spastic
  Acquired



RECESSIVE ATAXIAS


Friedreich Ataxia 2

  FRDA (Frataxin) ; Chromosome 9q21.11; Recessive
  FRDA2; Chromosome 9p23-p11; Recessive 11

Frataxin protein
Genetic features
Neurological features
Pathology
Systemic features
Variant syndromes

From Bramwell: Atlas of Clinical Medicine

Friedreich Ataxia

From Wikipedia

Ataxia with selective Vitamin E deficiency (AVED) 78
  α-Tocopherol transfer protein (ATTP; TTPA) ; Chromosome 8q12.3   Abetalipoproteinemia; Chromosome 4q24


Infantile Onset Spinocerebellar Ataxia (IOSCA) 29
  Twinkle (c10orf2) ; Chromosome 10q24.31; Recessive

Infantile Onset Spinocerebellar Ataxia & Psychomotor Delay (SCAR14; SPARCA1) 74
  β-Spectrin, nonerythrocytic, 2 (β-III Spectrin; SPTBN2) ; Chromosome 11q13.2; Recessive
Baltic Myoclonus (Unverricht-Lundborg)
  Cystatin B ; Chromosome 21q22.3; Recessive
Opsoclonus-Myoclonus-Ataxia 68
  KCTD7 ; Chromosome 7q11.21; Recessive
Progresssive Myoclonus Epilepsy-Ataxia Syndrome 46
  PRICKLE1 ; Chromosome 12q12; Recessive
Marinesco-Sjögren
  SIL1 Chromosome 5q31.2; Recessive
Charlevoix-Saguenay - Spastic Ataxia (ARSACS)
  Sacsin ; Chromosome 13q12.12; Recessive
Cayman ataxia
  ATCAY (Caytaxin) ; Chromosome 19p13.3; Recessive
Early onset cerebellar ataxia with retained tendon reflexes (EOCA)
  Chromosome 13q11-12 + Other loci; Recessive
Cerebellar ataxia, Childhood onset (SCAR7)
  Tripeptidyl peptidase I (TPP1; CLN2) ; Chromosome 11p15.4; Recessive
Ataxia with Oculomotor apraxia 1 (AOA1) 9
  Aprataxin ; Chromosome 9p21.1; Recessive
Cerebellar ataxia with Muscle coenzyme Q10 deficiency (EAOH) 1
  Aprataxin (APTX) ; Chromosome 9p21.1; Recessive
SCAR9: Cerebellar ataxia, Seizures and Ubiquinone deficiency (ARCA2; COQ10D4) 39
  Chaperone-activity of BC1 complex-like (CABC1, COQ8, ADCK3) ; Chromosome 1q42.13; Recessive or Sporadic
Cerebellar Ataxia with Psychomotor Retardation (ARCA; SCAR11) 60
  Synaptotagmin 14 (SYT14) ; Chromosome 1q32.2; Recessive
Ataxia with Oculomotor apraxia 2 (AOA2; SCAR1; SCAN2) 8
  Senataxin (SETX) ; Chromosome 9q34.13; Recessive
Ataxia with Oculomotor apraxia 3 (AOA3) 62
  Phosphatidylinositol 3-kinase, regulatory subunit 5 (PIK3R5) ; Chromosome 17p13.1; Recessive
Spinocerebellar ataxia with blindness and deafness (SCAR3)
  Chromosome 6p23-p21; Recessive
Cerebelloparenchymal disorder II (CPD II)

Cerebelloparenchymal disorder V (CPD V; Dyssynergia cerebellaris myoclonica)

Leukoencephalopathy with Vanishing WM
eIF2B2 mutation

T2 Flair

T2

T1
Leukoencephalopathies with vanishing white matter
  Translocation initiation factor eIF2B1, α subunit ; Chromosome 12q24.31; Recessive
  Translocation initiation factor eIF2B2, β subunit ; Chromosome 14q24.3; Recessive
  Translocation initiation factor eIF2B3, γ subunit ; Chromosome 1p34.1; Recessive
  Translocation initiation factor eIF2B4, δ subunit ; Chromosome 2p23.3; Recessive
  Translocation initiation factor eIF2B5, e subunit ; Chromosome 3q27.1; Recessive
  MYC-induced mitochondrial protein (B17.2L; Mimitin) ; Chromosome 5q12.1; Recessive
  Dominant



Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) 33
  Mitochondrial aspartyl-tRNA synthetase (DARS2) ; Chromosome 1q25.1; Recessive

Leukoencephalopathy with ataxia (LKPAT)
  Chloride channel 2 (CLCN2) ; Chromosome 3q27.1; Recessive

Tremor–ataxia with central hypomyelination (TACH) leukodystrophy 56
  POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A) ; Chromosome 10q22.3; Recessive

Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism (4H syndrome)
  POLR3B polymerase (RNA) III subunit B (POLR3B) ; Chromosome 12q23.3; Recessive

Salla disease
  Solute carrier family 17, Member 5 (SLC17A5; Sialin) ; Chromosome 6q13; Recessive
Ataxia with Laryngeal abductor paralysis & Motor neuropathy 10
  Recessive
Ataxia: Adult onset with Thalamic lesions 12
  POLG; Chromosome 15q26.1; Recessive
Ataxia with Bull’s-eye Macular Dystrophy 16
  Recessive

Spinocerebellar ataxia with saccadic intrusions (SCASI; SCAR4; SCA24)
  Chromosome 1p36; Recessive

Spinocerebellar ataxia with slow eye movements (SDSEM)
  Recessive
Portneuf spastic ataxia with leukoencephalopathy (ARSAL; SPAX3) 21
  Methionyl Aminoacyl-tRNA Synthetase 2 (MARS2) ; Chromosome 2q33.1; Recessive
Karak syndrome (NBIA2B)
  Phospholipase A2, Group VI (PLA2G6) ; Chromosome 22q13.1; Recessive
Ataxia with upward gaze palsy 25
  Recessive
SCAR8: Pure cerebellar ataxia (ARCA1; Beauce ataxia) 32
  Synaptic nuclear envelope protein 1 (SYNE1) ; Chromosome 6q25.1-q25.2; Recessive

Ataxia with Epilepsy & Mental retardation (SCAR 12) 34
  WW domain-containing oxidoreductase (WWOX) : Chromosome 16q23.1-q23.2; Recessive

Ataxia with Epilepsy & Mental retardation (SCAR) 80
  TRAF- & TNF Receptor-associated protein (TDP2; TTRAP) ; Chromosome 6p22.3; Recessive
Ataxia with Epilepsy & Mental retardation (Salih; SCAR15) 73
  KIAA0226 (Rubicon; Rundataxin) Chromosome 3q29; Recessive

Cerebellar hypoplasia, Mental retardation & Quadrupedal locomotion (CAMRQ2)
  WD repeat-containing protein 81 (WDR81) ; Chromosome 17p13.3; Recessive

Ataxia + Mental Retardation, mild & Quadrupedal locomotion (CAMRQ3) 50
  Carbonic anhydrase VIII (CA8; CARP) ; Chromosome 8q12.1; Recessive

Ataxia + Mental Retardation & Quadrupedal locomotion (CAMRQ4) 69
  ATPase, Class I, Type 8A, Member 2 (ATP8A2) ; Chromosome 13q12.13; Recessive
Ataxia + Epilepsy + Eye Disorders 48
  Collagen 18A1 ; Chromosome 21q22.3; Recessive

Ataxia + Progressive Myoclonus Epilepsy (North Sea) 59
  Golgi Snap Receptor Member Complex 2 (GOSR2; GS27) ; Chromosome 17q21.32; Recessive
SeSAME 49
  KCNJ10 (Kir4.1) ; Chromosome 1q23.2; Recessive

Ataxia + Motor Neuropathy 55
  Peroxisome biogenesis factor 10 (PEX10) ; Chromosome 1p36.32; Recessive
Ataxia + Motor Neuropathy 2 (SCAR10) 57
  Anoctamin 10 (ANO10; TMEM 16K) ; Chromosome 3p22.1; Recessive

Ataxia, Oculomotor Apraxia + Cerebellar Atrophy 72
  Glutamate receptor, ionotropic, delta 2 (GRID2) ; Chromosome 4q22.1-q22.2; Recessive

Ataxia, Cough + Sensory Neuropathy 75
  Recessive


CONGENITAL ATAXIC DISORDERS

General
Autosomal Recessive
Aprosencephaly + Cerebellar dysgenesis
Ataxia-Mental retardation: Xq24-q27
Behr syndrome
CAMOS (SCAR5): 15q24
Carbohydrate deficient glycoprotein, 1a: PMM2; 16p13
Cerebellar ataxia 1
Cerebellar ataxia 3 (CLA3; SCAR6): 20q11
Cerebellar ataxia (SCAR13): GRM1; 6q24
Cerebellar & Pancreatic aplasia: PTF1A; 10p13
Cerebelloparenchymal disorder IV (Joubert)
Cerebellotrigeminaldermal dysplasia
Cerebral palsy, Ataxic: 9p12-q12
COACH syndromes
  CC2D2A; 4p15
  TMEM67; 8q21
Congenital muscular dystrophies
  Cerebellar atrophy
  Muscle-Eye-Brain Disorders
    Santavuori (Finnish): POMGNT1; 1p34
    Walker-Warburg
Dandy-Walker: Chromosome disorders
  ZIC1 & ZIC4; 3q24
  FOXC1; 6p25
Fibroblast growth factor receptor-3: 4p16
Gillespie: PAX6; 11p13
Hoyeraal-Hreidarsson: Dyskerin; Xq28
 
Hypoplasia + Cerebral Gyral Simplification: VLDLR; 9p24  
Joubert syndromes
Lissencephaly
  Cleft palate & Cerebellar hypoplasia
  Cerebellar hypoplasia: RELN; 7q22
Microcephaly
  Brain malformation: CASK; Xp11
  Polymicrogyria & Corpus callosum agenesis: EOMES; 3p24
  MCHCCD
Pitt-Hopkins: TCF-4; 18q21
Pontocerebellar hypoplasia
  Progressive microcephaly: 7q11
  Spinal muscular atrophy (PCH1)
  Progressive cerebral atrophy (PCH2)
    PCH2A: TSEN54; 17q25
    PCH2B: TSEN2; 3p25
    PCH2C: TSEN34; 19q13
    Fatal infantile (PCH4): TSEN2; 3p25
    Fetal onset (PCH5)
    Pontocerebellar hypoplasia (PCH6): RARS2; 6q15
Quadrupedal locomotion (CAMRQ)
  1: VLDLR; 9p24
  2: 17p
  3: CA8; 8q11
  4: ATP8A2; 13q12
X-Linked
Ataxia-Deafness
Ataxia, Epilepsy & MR: OPHN1; Xq12
Ataxia + Mental retardation
Brain malformation & Microcephaly (MICPCH): CASK; Xp11
CASM: Xpter-q13.1
Congenital ataxia: Xq23
Congenital ataxia + Severe mental retardation: Xq24
Hoyeraal-Hreidarsson Syndrome: Dyskerin; Xq28
Mental retardation & Muscle wasting: CUL4B; Xq24
SCAX
  1: ATP2B3; Xq28
  2
  3 (Ataxia-Deafness)
  5: Xq25
TARP: RBM10; Xp11

Autosomal Dominant
CANPMR: CAMTA1; 1p36
CLA4 (SCA15): ITPR1; 3p26
Retardation-Dyskinesia-Coma: CACNA1A; 19p13
Skeleton-skin-brain syndrome: FGFR-3; 4p16


CONGENITAL ATAXIAS: AUTOSOMAL RECESSIVE or SPORADIC


Joubert syndromes 26, 61

General features

Types: Usually recessive
1: INPP5E; 9q34
2: TMEM216; 11q12
3: AHI1; 6q23
4: NPHP1; 2q13
5: CEP290; 12q21
6: TMEM67; 8q22
7: RPGRIP1L; 16q12
8: ARL13B; 3q11
9: CC2D2A; 4p15
10: OFD1 (CXORF5); Xp22
11: TTC21B; 2q24; Dominant
12: KIF7; 15q26
13: TCTN1; 12q24
14: TMEM237; 2q33
15: CEP41; 7q32
15A: TCTN2; 12q24
16: TMEM138; 11q12
17: c5orf42; 5p13
18: TCTN3; 10q24
19: ZNF423; 16q12
20: TMEM231; 16q23
21: CSPP1; 8q13
22: PDE6D; 2q37
Joubert: EXOC8; 1q42
COACH syndromes
  CC2D2A; 4p15
  TMEM67; 8q22
Nephronophthisis
  ATXN10; 22q13.31

From: A Paciorkowski
Molar Tooth Sign

Congenital Ataxias: Other



Ponto-Cerebellar Hypoplasia

PCH1 + Spinal muscular atrophy
  PCH1A: VRK1; 14q32
  PCH1B: EXOSC3; 9p13
  Other: EXOSC8; 13q13
PCH2: Progressive cerebral atrophy
  PCH2A: TSEN54; 17q25
  PCH2B: TSEN2; 3p25
  PCH2C: TSEN34; 19q13
  PCH2D: SEPSECS; 4p15
  PCH2E: VPS53; 17p13
PCH3: Progressive microcephaly (CLAM); 7q11
PCH4: Fatal infantile: TSEN54; 17q25
PCH5: Fetal onset
PCH6: Pontocerebellar hypoplasia; RARS2; 6q15
PCH7: PCH + Hypogonadism
PCH8: PCH + Microcephaly; CHMP1A; 16q24
PCH 9: PCH + Mega cisterna magna; AMPD2; 1p13
PCH10: PCH + Epilepsy; CLP1; 11p12
MIPCH: CASK; Xp11
PC atrophy: SPTAN1; 9q34
Other

CONGENITAL ATAXIA: X-LINKED

Late-onset Ataxia

Metabolic ataxias


X-LINKED ATAXIAS

Ataxia: Multisystem disorders
Mouse disorders
Patient information

Return to Ataxia Index
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References
1. Neurology 2001;56:849-855, Neurology 2003;60:1206–1208, Neurology 2004;62:818–820, Neurology 2007;68:295-297
2. J Med Genet 2000;37:1-8, Pediatr Neurol 2003;28:335-341, J Neurol 2009;256 (Supp 1):3-8
3. Neurology 2000;54:1408-1414, Arch Neurol 2003;60:982-988
4. Am J Med Genet 2000;92:53-56
5. Med Genet 1999;36:759-766
6. Neurology. 2000;55:99-104.
7. Nature Genetics 2000;26:93-96
8. Am J Hum Genet 2000;67:1320-1326, Nature Genetics 2004; March
9. Am J Hum Genet 2001;68:501-508, Arch Neurol 2001;58:173-174, Hum Mol Genet 2004 Online March
10. Neurology 2001;57:1412-1414
11. Neurogenetics 2001;3:127-132
12. Neurology 2001;57:1043-1049
13. Heart 2002;87:346-349
14. Neurology 2001;57:127-130, Brain 2002;125:1760-1771, Am J Hum Genet 2003;72:869–878
15. J Clin Endocrinol Metab, April 2002:87:1607–1612, Pediatr Neurol 2010;42:359-364, N Engl J Med 2013;368:1992-2003
16. Am J Ophthalmol 2002:133:410-413
17. Brain 2003;126 August, J Med Genet 2003;40:441–446
18. Neurology 2003;61:274-275
19. Am J Hum Genet 2003; Online August
20. Nature Genet 2003; Online October
21. Brain 2006; On-line May 3, PLoS Biol 2012;10:e1001288
22. Nature Genet 2004; Online August
23. Nature Genet 2004; Online September
24. Nature Genet 2004; Online November
25. Neurology 2005;64:142–144
26. Ann Neurol 2005;57:513–519
27. Paediatr Anaesth 2005;15:433-434
28. Ann Neurol 2005 Jul 26
29. Hum Mol Genet 2005; Online Aug
30. Nature Genetics 2005; Online Nov 13
31. J Hum Genet 2006; Jul 11
32. Nat Genet 2006 Dec 10
33. Nat Genet 2007;39:534-539
34. Brain 2007; Online April Brain 2013; Online December
35. Neurology 2004;62:818-820
36. Nature Genetics 2007; Online June A; B
37. Am J Human Genet 2007; Online July
38. Am J Med Genet A 2008 Feb 1
39. Am J Human Genet 2008;82:623–630, 2008;82:661–672
40. Am J Med Genet Part A 143A:2256–2260
41. Am J Human Genet 2008; Online Aug
42. Nature Genet 2008; Online August
43. Nature Genet 2007;39:454-456
44. Nat Genet 2008 Aug 17
45. Am J Hum Genet 2008 Oct 22
46. American Journal of Human Genetics 2008; November
47. Hum Mutat 2008 Dec 4
48. American Journal of Medical Genetics 2009 Jan 21
49. Proc Natl Acad Sci U S A 2009 Mar 16, NEJM 2009;360:1960-1970
50. PLoS Genet 2009 May;5(5):e1000487
51. Nature Genet 2009; Online August
52. Semin Pediatr Neurol 2009;16:143–154
53. American Journal of Human Genetics 2009; October
54. Am J Hum Genet 2009; Online Dec
55. Ann Neurol 2010;68:259-263
56. Neurogenetics 2010; Online July, Am J Human Genet 2011;89-415-423
57. Am J Hum Genet 2010; Online Nov
58. Nature Genetics 2011; On Line January
59. Am J Human Genetics 2011; Online May, Brain 2013 Feb 28
60. Am J Human Genetics 2011;89:320–327
61. Cell 2011;145:513-528
62. Human Mutation 2011; Online November
63. Am J Human Genet 2011;89:713-730
64. Nature Genetics 2012: Online Jan
65. European Journal of Human Genetics 2012; On line Jan
66. Am J Human Genet 2012; Online March
67. Arch Neurol 2012; Online Mar
68. J Neurol 2012 May 26
69. Eur J Hum Genet 2012 Aug 15, Plos Genet 2012;8:e1002853
70. Am J Human Genet 2012; Online August
71. Nature Genetics 2012; Online September
72. J Child Neurology 2013; Online April
73. Cerebellum 2013; Online June
74. European Journal of Human Genetics 2013; Online July
75. Cerebellum 2013; Online October
76. Muscle Nerve 2013; Online October
77. PLoS One 2013 Dec 2;8(12):e81884, Hum Mol Genet 2013 Oct 16
78. Brain 2013; Online December
79. Neurology 2014;82: Online February
80. Nature Genetics 2014; Online March
81. Cerebellum 2014;13:79-88, Am J Human Genet 2014; Online August

10/23/2014