ATAXIAS, SYNDROMIC

ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, AMACR, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CLCN2, CLN5, CLN6, COQ8A, CP, CPLANE1, CSPP1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, FLVCR1, GALC, GBA, GBA2, GJB1, GOSR2, INPP5E, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NPC1, NPC2, NPHP1, OFD1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PEX10, PEX2, PLA2G6, PNPLA6, POC1B, POLG, POLR3A, RPGRIP1L, SACS, SIL1, SLC17A5, SPG7, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, VAMP1, VLDLR, WFS1, ZNF423

Description

Scientific background

  • 3-methylglutaconaciduria, type III (OPA3, AR)
  • 3-Methylglutaconaciduria, type V (DNAJC19, AR)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR, AR)
  • Anemia, sideroblastic, with ataxia, X-linked (ABCB7, XL)
  • Ataxia telangiectasia (ATM, AR)
  • Ataxia telangiectasia-like disease (MRE11, AR)
  • Ataxia, autosomal recessive (PEX10, AR)
  • Ataxia, cerebellar, Cayman type (ATCAY, AR)
  • Behr syndrome (OPA1, AR)
  • Biotinidase deficiency (BTD, AR)
  • Boucher-Neuhauser syndrome (PNPLA6, AR)
  • CAPOS syndrome (ATP1A3, AD)
  • Cerebellar ataxia (CP, AR)
  • Cerebellar ataxia and mental retardation (CA8, AR)
  • Cerebellar ataxia and mental retardation 4 (?) (ATP8A2, AR)
  • Cerebellar ataxia with spasticity (GBA2, AR)
  • Cerebellar ataxia, deafness and narcolepsy, autosomal dominant (DNMT1, AD)
  • Cerebellar hypoplasia and mental retardation (VLDLR, AR)
  • Cerebrotendinous xanthomatosis (CYP27A1, AR)
  • Charcot-Marie-Tooth neuropathy, X-dominant, 1 (GJB1, XLD)
  • Epilepsy, progressive, myoclonic 6 (GOSR2, AR)
  • Gaucher disease type III (GBA, AR)
  • Infantile limb and orofacial dyskinesia (PDE10A, AR)
  • Joubert syndrome phenotype (POC1B, AR)
  • Joubert syndrome type 1 (INPP5E, AR)
  • Joubert syndrome type 10 (OFD1, XLR)
  • Joubert syndrome type 11 (TTC21B, AR)
  • Joubert syndrome type 12 (KIF7, AR)
  • Joubert syndrome type 13 (TCTN1, AR)
  • Joubert syndrome type 14 (TMEM237, AR)
  • Joubert syndrome type 15 (CEP41, AR)
  • Joubert syndrome type 16 (TMEM138, AR)
  • Joubert syndrome type 17 (CPLANE1, AR)
  • Joubert syndrome type 18 (TCTN3, AR)
  • Joubert syndrome type 19 (ZNF423, AR)
  • Joubert syndrome type 2 (TMEM216, AR)
  • Joubert syndrome type 20 (TMEM231, AR)
  • Joubert syndrome type 21 (CSPP1, AR)
  • Joubert syndrome type 22 (PDE6D, AR)
  • Joubert syndrome type 23 (KIAA0586, AR)
  • Joubert syndrome type 3 (AHI1, AR)
  • Joubert syndrome type 4 (NPHP1, AR)
  • Joubert syndrome type 5 (CEP290, AR)
  • Joubert syndrome type 6 (TMEM67, AR)
  • Joubert syndrome type 7 (RPGRIP1L, AR)
  • Joubert syndrome type 8 (ARL13B, AR)
  • Joubert syndrome type 9 (CC2D2A, AR)
  • Joubert/Meckel syndrome phenotype (TCTN2, AR)
  • Joubert/nephronophthisis phenotype (ATXN10, AR)
  • Krabbe disease (GALC, AR)
  • Leukoencephalopathy with ataxia (CLCN2, AR)
  • Leukoencephalopathy with brainstem and spinal involvement and lactate elevation (DARS2, AR)
  • Marinesco-Sjogren syndrome (SIL1, AR)
  • Metachromatic leukodystrophy (ARSA, AR)
  • Mitochondrial recessive ataxia syndrome (POLG, AR)
  • Neurodegeneration with iron accumulation in brain 1 (PANK2, AR)
  • Neurodegeneration with iron accumulation in the brain (PLA2G6, AR)
  • Neuronal ceroid lipofuscinosis 5 (CLN5, AR)
  • Neuronal ceroid lipofuscinosis 6 (CLN6, AR)
  • Niemann-Pick disease, type C1 (NPC1, AR)
  • Niemann-Pick disease, type C2 (NPC2, AR)
  • Peroxisome biogenesis defect 5B (PEX2, AR)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1, AR)
  • Polyneuropathy, ataxia, hearing loss, retinitis pigmentosa and cataract (ABHD12, AR)
  • Posterior cord ataxia with retinitis pigmentosa (FLVCR1, AR)
  • Primary coenzyme Q10 deficiency type 4 (COQ8A, AR)
  • Pyruvate dehydrogenase E2 deficiency (DLAT, AR)
  • Salla disease (SLC17A5, AR)
  • Spastic ataxia (POLR3A, AR)
  • Spastic ataxia (SPG7, AR)
  • Spastic ataxia type 1 (VAMP1, AD)
  • Spastic ataxia type 2 (KIF1C, AR)
  • Spastic ataxia type 3 (MARS2, AR)
  • Spastic ataxia type 4 (MTPAP, AR)
  • Spastic ataxia type 5 (AFG3L2, AR)
  • Spastic ataxia, Charlevoix-Saguena type (SACS, AR)
  • Spastic paraplegia 76 (CAPN1, AR)
  • Wolfram syndrome (WFS1, AR)

 

Disorders are inherited in an autosomal dominant (AD) or autosomal recessive (AR) or X-linked (XL) or X-linked dominant (XLD) pattern.

 

For detailed information on ataxias and diagnostics, please visit our overview page ATAXIAS.

GENES

ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, AMACR, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CLCN2, CLN5, CLN6, COQ8A, CP, CPLANE1, CSPP1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, FLVCR1, GALC, GBA, GBA2, GJB1, GOSR2, INPP5E, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NPC1, NPC2, NPHP1, OFD1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PEX10, PEX2, PLA2G6, PNPLA6, POC1B, POLG, POLR3A, RPGRIP1L, SACS, SIL1, SLC17A5, SPG7, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, VAMP1, VLDLR, WFS1, ZNF423
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