HEREDITARY ATAXIA: RECESSIVE, CONGENITAL & X-LINKED

Autosomal RecessiveAutosomal DominantMitochondrialX-LinkedAtaxia/Cerebellar

ataxia/recatax.html#HEREDITARY ATAXIA: RECESSIVE, CONGENITAL & X-LINKED 106

Overview

From WUSTL Neuromuscular

Recessive Ataxia: Syndromes General AAA: AAAS; 12q13 Abetalipoproteinemia: MTTP; 4q23 ARCA 1 (SCAR8): SYNE1; 6q25 2 (SCAR9): CABC1; 1q42 PNPLA6: 19p13 Retardation (SCAR11): SYT14; 1q32 Ataxia + Epilepsy 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 Myoclonus (EPM) 1A: CSTB; 21q22 1B: PRICKLE1; 12q12 2A: Laforin 2B: NHLRC1 3: KCTD7; 7q11 4 (Dem PN): SCARB2; 4q21 6: GOSR2; 17q21 Motor Neuropathy Laryngeal paralysis PEX10; 1p36 SCAR10: ANO10; 3p22

External Resources

WUSTL Neuromuscular

Washington University Disease Center

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.