AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

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.