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Recessive ataxia syndromes
  AAA: AAAS; 12q13
  Abetalipoproteinemia: MTTP; 4q23
    1 (SCAR8): SYNE1; 6q25
    2 (SCAR9): CABC1; 1q42
    PNPLA6: 19p13
    Retardation (SCAR11): SYT14; 1q32
  Ataxia +
      Eye disorders: COL18A1; 21q22
      Mental retardation
        CDG1C: ALG6; 1p31
        Dravet (EIEE6): SCN1A; 2q24
        SCAR12: WWOX; 16q23
        SCAR15: KIAA0226; 3q29
        SCAR20: SNX14; 6q14
        SCAR22: VWA3B; 2q11
        SCAR23: TDP2; 6p22
        Progressive: GOSR2; 17q21
        Progressive 2: PRICKLE1; 12q12
        Unverricht-Lundborg: CSTB; 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
    AOA4: PNKP; 19q13
    AOA: GRID2; 4q22
    AOA: XRCC1; 19q13
    PCH1B: EXOSC3; 9p13
    Ataxia & Cysts: LAMA1; 18p11
    Cerebro-Renal: SLC30A9; 4p13
    Joubert syndromes
  Ataxia telangectasia (AT)
    AT: ATM; 11q22
    AT-like 1 (ATLD1): MRE11; 11q21
    AT-like 2 (ATLD2): PCNA; 20p12
  Cardiac, dilated +: DNAJC19; 3q26

  Cataracts: UBA5; 3q22
  CAVIPMR: EMC1; 1p36
  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
    ANO10; 3p22
  Cough + Sensory PN
  Cytochrome c Oxidase I: Mitochondrial
  DNA repair defects
  EOCA + Retained reflexes: 13q12
    Lichtenstein-Knorr (SCAR19): 1p36
    Optic atrophy (SCAR3): 6p21
  Friedreich ataxia (FRDA)
    1: Frataxin; 9q21
    2: 9p23
  Galactosialidosis: 20q13
  Hepato-Neuropathy: SCYL1; 11q13
  Infant onset (IOSCA): Ataxia +
    CNS & PN: Twinkle; 10q24
    Psychomotor (SCAR14): SPTBN2; 11q13
  Karak: PLA2G6; 22q13
  Laryngeal paralysis & Motor neuropathy
    LBSL: DARS2; 1q25
    LKENP: AARS2; 6p21
    LKPAT: CLCN2; 3q27
    Vanishing white matter
  Macular dystrophy
  Marinesco-Sjögren: SIL1; 5q31
  Metabolic disorders
  MIRAS: POLG1; 15q25
  Myopathy & Movement: TRAPPC11; 4q35
  NEDMAS: SARS; 1p13

  PCARP: 1q31
  PHARC: ABHD12; 20p11
  Pontocerebellar hypoplasia (PCH)
  Portneuf spastic ataxia: MARS2; 2q33
  Retinal degeneration
    ACO2; 2q13
    CTSD; 11p15
  Saccadic intrusions (SCAR4): 1p36
  Salla (Sialic acid): SLC17A5; 6q13
  SANDO: POLG1; 15q25
  SeSAME: KCNJ10; 1q23
  Slow eye movements
  SPG7: 16q24
  TACH (4H): POLR3A; 10q22
  Thalamic lesions & Adult onset
  Vitamin E deficient: ATTP; 8q12
  Xeroderma pigmentosum

  1 (AOA2): Senataxin; 9q34
  2 (CLA1): PMPCA; 9q34
  3 (Hearing loss & OA): 6p21
  4 (Saccadic intrusions): 1p36
  5 (GAMOS): WDR73; 15q23
  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
  17: CWF19L1; 10q24
  18: GRID2; 4q22
  19: SLC9A1; 1p36
  20: SNX14; 6q14
  21: SCYL1; 11q13
  22: VWA3B; 2q11
  23: TDP2; 6p22
  24: UBA5; 3q22
  25: ATG5; 6q21
  26: XRCC1; 19q13
X-linked ataxias
  Arts Syndrome
  Extrapyramidal disorders
Mental retardation-Epilepsy: SLC9A6
  Pelizaeus-Merzbacher allelic variant: PLP
  Pyruvate dehydrogenase E1-α
  Rett syndrome: MECP2
  Sideroblastic anemia: ABC7
  Tremor & Cognitive decline: FMR1; Xq27

Other ataxia syndromes

Recessive Ataxia
  Neuromuscular associations

Protein Types

Signal Transduction Lysosome Peroxisome Vesicle Traffic Protein Quality Control
Laboratory Features
Acanthocyes: ABL
Albumin low: AOA1; SCAN1
α-fetoprotein high: AOA2; AT
Cholestanol high: CTX
Cholesterol high: AOA1; AOA2; SCAN1
Coenzyme Q10 (muscle) low: AOA1; SCAR9; APTX
Hexosaminidase A low: LOTS
Immunoglobulins low: AT;ATLD1
Lactate high: SCAR9
Radiosensitivity: AT;ATLD1
Gonadotropins low: PNPLA6; RNF216; SCAR16
Very long chain fatty acids (Peroxisomal): AMACR; PEX; Refsum
Vitamin E low: ABL; AVED


Friedreich Ataxia 2

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

Frataxin protein
Genetic features
Neurological features
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 (CSTB) ; Chromosome 21q22.3; Recessive
Opsoclonus-Myoclonus-Ataxia 68
  KCTD7 ; Chromosome 7q11.21; Recessive
Progresssive Myoclonus Epilepsy-Ataxia Syndrome 46
  PRICKLE1 ; Chromosome 12q12; Recessive
  SIL1 Chromosome 5q31.2; Recessive
Charlevoix-Saguenay - Spastic Ataxia (ARSACS; SPAX 6)
  Sacsin (SACS) ; 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
Cerebellar ataxia, Retinal degeneration & Cognitive decline
  Cathepsin D (CTSD) ; Chromosome 11p15.5; 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, COQ8A, 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
Ataxia with Oculomotor Apraxia 4 (AOA4) 84
  Polynucleotide kinase 3-prime phosphatase (PNKP) ; Chromosome 19q13.33; 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


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

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
Ataxia: Adult onset with Thalamic lesions 12
  POLG; Chromosome 15q26.1; Recessive
Ataxia with Bull’s-eye Macular Dystrophy 16

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

Spinocerebellar ataxia with slow eye movements (SDSEM)
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
SCAR8: Pure cerebellar ataxia (ARCA1; Beauce ataxia) 32
  Synaptic nuclear envelope protein 1 (SYNE1; Nesprin 1) ; 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 23) 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

Ataxia with Mental retardation (SCAR20) 83
  Sorting Nexin 14 (SNX14) ; Chromosome 6q14.3; Recessive
Ataxia with Mental retardation & Pyramidal features (SCAR 22) 87
  von Willebrand factor A domain-containing protein 3B (VWA3B) ; Chromosome 2q11.2; Recessive
Congenital Ataxia with Mental retardation (SCAR17)
  CWF19-like protein 1 (CWF19L1) ; Chromosome 10q24.31; 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
  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 (SCAR 18) 72
  Glutamate receptor, ionotropic, delta 2 (GRID2) ; Chromosome 4q22.1-q22.2; Recessive

SCAR19: Ataxia-Deafness (Lichtenstein-Knorr syndrome )
  Solute carrier family 9, member 1 (SLC9A1) ; Chromosome 1p36.11; Recessive

Hepatocerebellar-Neuropathy (SCAR21) 93
  SCY1-Like 1 (SCYL1) ; Chromosome 11q13.1; Recessive

Ataxia + Cataracts, Childhood onset (SCAR24) 94
  Ubiquitin-activating enzyme E1 domain-containing 1 (UBA5; UBE1DC1) ; Chromosome 3q22.1; Recessive

Spinocerebellar ataxia, Autosomal recessive 25 (SCAR25)
  Autophagy 5, S. Cerevisiae, homolog of 1 (ATG5) ; Chromosome 6q21; Recessive

Spinocerebellar ataxia, Autosomal recessive 26 (SCAR26)
  X-ray repair, complementing defective, in Chinese hamster, 1 (XRCC1) ; Chromosome 19q13.31; Recessive

Ataxia, Cough + Sensory Neuropathy 75

Cerebellar atrophy, Visual impairment & Psychomotor retardation (CAVIPMR)
  Endoplasmic reticulum membrane protein complex, Subunit 1 (EMC1) ; Chromosome 1p36.13; Recessive

Cerebellar atrophy, Developmental delay & Spasticity 96
  tRNA-Histidine Guanylyltransferase 1 like (THG1L) ; Chromosome 5q33.3; Recessive
Cerebro-Renal syndrome
  Solute carrier family 30 (Zinc transporter), Member (SLC30A9; ZnT-9) ; Chromosome 4p13; Recessive
  Cathepsin A (CTSA) ; Chromosome 20q13.12; Recessive


Autosomal Recessive
Aprosencephaly + Cerebellar dysgenesis
Ataxia-Mental retardation: Xq24-q27
Behr syndrome
CDG1A: PMM2; 16p13
Cerebellar ataxia 1
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
  ZIC1 & ZIC4; 3q24
  FOXC1; 6p25
  SMG9: 19q13
Fibroblast growth factor receptor-3: 4p16
Gillespie: PAX6; 11p13
Hoyeraal-Hreidarsson: Dyskerin; Xq28
Hypoplasia + Simple Cerebral Gyri: VLDLR; 9p24  
Joubert syndromes
  Cleft palate & Cerebellar hypoplasia
  Cerebellar hypoplasia: RELN; 7q22
MARCH: CEP55; 10q23
  Brain malformation: CASK; Xp11
  Polymicrogyria & Corpus callosum agenesis: EOMES; 3p24
Pitt-Hopkins: TCF-4; 18q21
Pontocerebellar hypoplasia (PCH)
Quadrupedal locomotion (CAMRQ)
  1: VLDLR; 9p24
  2: WDR81; 17p13
  3: CA8; 8q11
  4: ATP8A2; 13q12
  5 (CAMOS): WDR73; 15q25
  6 (CLA3): 20q11
  13: GRM1; 6q24
  17: CWF19L1; 10q24
  25: ATG5; 6q21
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
  1: ATP2B3; Xq28
  3 (Ataxia-Deafness)
  5: Xq25
TARP: RBM10; Xp11

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


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
16: TMEM138; 11q12
17: c5orf42; 5p13
18: TCTN3; 10q24
19: ZNF423; 16q12
20: TMEM231; 16q23
21: CSPP1; 8q13
22: PDE6D; 2q37
23: KIAA0586; 14q23
24: TCTN2; 12q24
25: CEP104; 1p36
26: KIAA0556; 16p12
27: B9D1; 17p11
28: MKS1; 17q22
29: TMEM107; 17p13
30: ARMC9; 2q37
31: CEP120; 5q23
32: SUFU; 10q24
33: PIBF1; 13q21
Joubert: EXOC8; 1q42
Joubert: C2CD3; 11q13
COACH syndromes
  CC2D2A; 4p15
  TMEM67; 8q22
  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
  PCH1C: EXOSC8; 13q13
  PCH1D: SLC25A46; 5q22
    Lethal Congenital
PCH2: Progressive cerebral atrophy
  PCH2A: TSEN54; 17q25
  PCH2B: TSEN2; 3p25
  PCH2C: TSEN34; 19q13
  PCH2D: SEPSECS; 4p15
  PCH2E: VPS53; 17p13
  PCH2F: TSEN15; 1q25
PCH3: Progressive microcephaly (CLAM); PCLO; 7q21
PCH4: Fatal infantile: TSEN54; 17q25
PCH5: Fetal onset
PCH6: Pontocerebellar hypoplasia; RARS2; 6q15
PCH7: PCH + Hypogonadism; TOE1; 1p34
PCH8: PCH + Microcephaly; CHMP1A; 16q24
PCH9: PCH + Mega cisterna magna; AMPD2; 1p13
PCH10: PCH + Epilepsy; CLP1; 11p12
PCH11: TBC1D23; 3q12
PC atrophy: SPTAN1; 9q34
Also see: Congenital ataxia


Late-onset Ataxia

Metabolic ataxias


Ataxia: Multisystem disorders
Mouse disorders
Patient information

Return to Ataxia Index
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