Table 1 Genetic data on ARCA Disorders
| Â | Protein (GENE or LOCUS) | Location | MIM |
|---|---|---|---|
Congenital ataxias | Â | Â | Â |
Joubert syndrome | Â | Â | Â |
   JBTS1 (cerebelloparenchymal disorder IV, CPD IV) | (JBTS1) | 9q34 | #213300 |
   JBTS2 (CORS2) | (JBTS2) | 11p12-p13.3 | #608091 |
   JBTS3 | AHI1 (AHI1) | 6q23 | #608629 |
   JBTS4 (nephronophthisis 1) | (NPHP1) | 2q13 | #609583 |
   JBTS5 | nephrocystin-6 (CEP290 or NPHP6) | 12q21.32 | #610188 |
Cayman ataxia | Cayataxin, (ATCAY) | 19p13.3 | #601238 |
Metabolic ataxias | Â | Â | Â |
Ataxia with isolated vitamin E deficiency (AVED) | Alpha-tocopherol transfer protein (α-TTP) | 8q13 | #277460 |
Abetalipoproteinemia | Microsomal trygliceride transfer protein (MTP) | 4q22-q24 | #200100 |
Cerebrotendinous xanthomatosis | Sterol 27-hydroxylase (CYP27) | 2q33-qter | #213700 |
Refsum disease | Phytanoyl-CoA hydrixylase (PhyH) Peroxisomal biogenesis factor-7 (PEX7) | 10pter-p11.2 6q22-q24 | #266500 |
DNA repair defects | Â | Â | Â |
Ataxia telangiectasia | ATM | 11q22.3 | #208900 |
Ataxia with oculomotor apraxia 1 (AOA1) | Aprataxin (APTX) | 9p13 | #208920 |
Ataxia with oculomotor apraxia 2 (AOA2) or SCAR1 | Senataxin (SETX) | 9q34 | #606002 |
Ataxia-telangiectasia-like disorder (ATLD) | MRE11A | 11q21 | #604391 |
Spinocerebellar ataxia with axonal neuropathy (SCAN1) | Tyrosyl-DNA phosphodiesterase 1 (TDP1) | 14q31 | #607250 |
Xeroderma Pigmentosum (XP) | Â | Â | Â |
   XP of complementation group A | XPA (XPA) | 9q22.3 | #278700 |
   XP of complementation group B | XPB/ERCC3·(XPB/ERCC3) | 2q21 | #133510 |
   XP of complementation group C | XPC (XPC) | 3p25 | #278720 |
   XP of complementation group D | XPD/ERCC2 (XPD/ERCC2) | 19q13.2-q13.3 | #278730 |
   XP of complementation group E | XPE (DDB2) | 11p12-p11 | #278740 |
   XP of complementation group F | XPF/ERCC4 (XPF/ERCC4) | 16p13.3-p13.3 | #278760 |
   XP of complementation group G | XPG/ERCC5 (XPG/ERCC5) | 13q32-q33 | #133530 |
   XP variant (XPV) or XP with normal DNA repair rates | POLH (POLH) | 6p21.1-p12 | #278750 |
Degenerative ataxias | Â | Â | Â |
Friedreich ataxia | Frataxin (FRDA or FXN) | 9q13 | #229300 |
Mitochondrial recessive ataxic syndrome (MIRAS) | Polymerase γ (POLG) |  | *174763 |
Charlevoix-Saguenay spastic ataxia | Sacsin (SACS) | 13q12 | #270550 |
Early onset cerebellar ataxia with retained tendon reflexes (EOCARR) | Â | 13q11-12 | #212895 |
Infantile onset spinocerebellar ataxia (IOSCA) | Twinkle (C10orf2) | 10q22.3-q24.1 | #271245 |
Marinesco-Sjögren syndrome: |  |  | #248800 |
   Classical MSS | SIL1 (SIL1) | 5q32 |  |
   MSS with myoglobinuria |  | 18qter |  |
Coenzyme Q10 deficiency with cerebellar ataxia | ? | Â | #607426 |
Posterior column ataxia and retinitis pigmentosa (PCARP) | (AXPC1) | 1q31 | #609033 |