SCIENTIFIC BACKGROUND

ABCB7, ADGRG1, AFG3L2, AHI1, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATG5, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CHP1, CLCN2, CLN5, COA7, COQ8A, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FLVCR1, GALC, GBA, GBA2, GCLC, GDAP2, GOSR2, GRID2, GRM1, INPP5E, KCNJ10, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NEU1, NPC1, NPC2, NPHP1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PDHX, PEX10, PEX2, PIK3R5, PMPCA, PNKP, PNPLA6, POC1B, POLG, RNF216, RPGRIP1L, RUBCN, SACS, SCYL1, SETX, SIL1, SLC17A5, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TPP1, TTC21B, TTPA, UBA5, VLDLR, VPS13D, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZNF423

Scientific background

  • 3-methylglutaconaciduria, type III (OPA3)
  • 3-Methylglutaconaciduria, type V (DNAJC19)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Anemia, sideroblastic, with ataxia (X-linked) (ABCB7, XL)
  • Ataxia telangiectasia-like disease (MRE11)
  • Ataxia with isolated vitamin E deficiency (TTPA)
  • Ataxia, autosomal recessive (CHP1)
  • Ataxia, autosomal recessive, due to PEX10 deficiency (PEX10)
  • Ataxia, cerebellar, Cayman type (ATCAY)
  • Ataxia, ocular apraxia type 1 (APTX)
  • Ataxia, ocular apraxia Type 2 (SETX)
  • Ataxia, ocular apraxia Type 3 (PIK3R5)
  • Ataxia, ocular apraxia Type 4 (PNKP)
  • Behr syndrome (OPA1)
  • Biotinidase deficiency (BTD)
  • Boucher-Neuhauser syndrome (PNPLA6)
  • Cerebellar ataxia (CP)
  • Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon-Holmes syndrome) (RNF216)
  • Cerebellar ataxia and mental retardation (CA8)
  • Cerebellar Ataxia and Mental Retardation 4 (?) (ATP8A2)
  • Cerebellar ataxia with spasticity (GBA2)
  • Cerebellar Ataxia, Mental Retardation 2 (WDR81)
  • Cerebellar Hypoplasia and Mental Retardation (VLDLR)
  • Cerebrotendinous Xanthomatosis (CYP27A1)
  • Epilepsy, progressive, myoclonic 6 (GOSR2)
  • Gamma-glutamylcysteine synthetase deficiency (GCLC)
  • Gaucher disease type III (GBA)
  • Infantile limb and orofacial dyskinesia (PDE10A)
  • Joubert syndrome phenotype (POC1B)
  • Joubert syndrome type 01 (INPP5E)
  • Joubert syndrome type 02 (TMEM216)
  • Joubert syndrome type 03 (AHI1)
  • Joubert syndrome type 04 (NPHP1)
  • Joubert syndrome type 05 (CEP290)
  • Joubert syndrome type 06 (TMEM67)
  • Joubert syndrome type 07 (RPGRIP1L)
  • Joubert syndrome type 08 (ARL13B)
  • Joubert syndrome type 09 (CC2D2A)
  • Joubert syndrome type 11 (TTC21B)
  • Joubert syndrome type 12 (KIF7)
  • Joubert syndrome type 13 (TCTN1)
  • Joubert syndrome type 14 (TMEM237)
  • Joubert syndrome type 15 (CEP41)
  • Joubert syndrome type 16 (TMEM138)
  • Joubert syndrome type 17 (CPLANE1)
  • Joubert syndrome type 18 (TCTN3)
  • Joubert syndrome type 19 (ZNF423)
  • Joubert syndrome type 20 (TMEM231)
  • Joubert syndrome type 21 (CSPP1)
  • Joubert syndrome type 22 (PDE6D)
  • Joubert syndrome type 23 (KIAA0586)
  • Joubert/Meckel syndrome phenotype (TCTN2)
  • Joubert/nephronophthisis phenotype (ATXN10)
  • Krabbe disease (GALC)
  • Lactic acidemia due to PDX1 deficiency (PDHX)
  • Leukoencephalopathy with ataxia (CLCN2)
  • Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (DARS2)
  • Leukoencephalopathy with white matter loss (EIF2B1)
  • Leukoencephalopathy with white matter loss (EIF2B2)
  • Leukoencephalopathy with white matter loss (EIF2B3)
  • Leukoencephalopathy with white matter loss (EIF2B4)
  • Leukoencephalopathy with white matter loss (EIF2B5)
  • Lichtenstein-Knorr syndrome (SLC9A1)
  • Marinesco-Sjogren syndrome (SIL1)
  • Metachromatic leukodystrophy (ARSA)
  • Mitochondrial recessive ataxia syndrome (POLG)
  • Neurodegeneration with iron accumulation in brain 1 (PANK2)
  • Neuronal ceroid lipofuscinosis 4, type Parry (DNAJC5, AD)
  • Neuronal ceroid lipofuscinosis 5 (CLN5)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-Pick disease, type C2 (NPC2)
  • Peroxisome biogenesis defect 5B (PEX2)
  • Polymicrogyria, bilateral frontoparietal (ADGRG1)
  • Posterior limb ataxia with retinitis pigmentosa (FLVCR1)
  • Primary coenzyme Q10 deficiency type 4 (COQ8A)
  • Pyruvate dehydrogenase E2 deficiency (DLAT)
  • Salla disease (SLC17A5)
  • SESAME syndrome (KCNJ10)
  • Sialidosis, type I+II (NEU1)
  • Spastic ataxia (SPG7)
  • Spastic ataxia type 2 (KIF1C)
  • Spastic Ataxia Type 3 (MARS2)
  • Spastic Ataxia Type 4 (MTPAP)
  • Spastic ataxia type 5 (AFG3L2)
  • Spastic ataxia, Charlevoix-Saguena type (SACS)
  • Spastic Paraplegia 76 (CAPN1)
  • Spinocerebellar ataxia, autosomal recessive 02 (PMPCA)
  • Spinocerebellar ataxia, autosomal recessive 04 (VPS13D)
  • Spinocerebellar ataxia, autosomal recessive 07 (TPP1)
  • Spinocerebellar ataxia, autosomal recessive 08 (SYNE1)
  • Spinocerebellar ataxia, autosomal recessive 10 (ANO10)
  • Spinocerebellar ataxia, autosomal recessive 11 (?) (SYT14)
  • Spinocerebellar ataxia, autosomal recessive 12 (WWOX)
  • Spinocerebellar ataxia, autosomal recessive 13 (GRM1)
  • Spinocerebellar ataxia, autosomal recessive 14 (SPTBN2)
  • Spinocerebellar ataxia, autosomal recessive 15 (?) (RUBCN)
  • Spinocerebellar ataxia, autosomal recessive 16 (STUB1)
  • Spinocerebellar ataxia, autosomal recessive 17 (CWF19L1)
  • Spinocerebellar ataxia, autosomal recessive 18 (GRID2)
  • Spinocerebellar ataxia, autosomal recessive 20 (SNX14)
  • Spinocerebellar ataxia, autosomal recessive 21 (SCYL1)
  • Spinocerebellar ataxia, autosomal recessive 22 (?) (VWA3B)
  • Spinocerebellar ataxia, autosomal recessive 23 (TDP2)
  • Spinocerebellar ataxia, autosomal recessive 24 (?) (UBA5)
  • Spinocerebellar ataxia, autosomal recessive 25 (?) (ATG5)
  • Spinocerebellar ataxia, autosomal recessive 26 (?) (XRCC1)
  • Spinocerebellar ataxia, autosomal recessive 27 (GDAP2)
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy (TDP1)
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (COA7)
  • Wolfram syndrome (WFS1)

 

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

 

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

GENES

ABCB7, ADGRG1, AFG3L2, AHI1, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATG5, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CHP1, CLCN2, CLN5, COA7, COQ8A, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FLVCR1, GALC, GBA, GBA2, GCLC, GDAP2, GOSR2, GRID2, GRM1, INPP5E, KCNJ10, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NEU1, NPC1, NPC2, NPHP1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PDHX, PEX10, PEX2, PIK3R5, PMPCA, PNKP, PNPLA6, POC1B, POLG, RNF216, RPGRIP1L, RUBCN, SACS, SCYL1, SETX, SIL1, SLC17A5, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TPP1, TTC21B, TTPA, UBA5, VLDLR, VPS13D, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZNF423

ASSOCIATED TESTS

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