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Article

New autosomal recessive cerebellar ataxias with oculomotor apraxia.

Current neurology and neuroscience reports - 1 Sept 2005

Le Ber Isabelle, Brice Alexis, Dürr Alexandra

Abstract excerpt

Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases. Recently, a subgroup of ARCA associated with oculomotor apraxia (AOA) has been delineated. It includes at least four distinct genetic entities: ataxia-telangiectasia, ataxia-telangiectasia-like disorder, and ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2). The phenotypes share...

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Source

Identifiers

PMID: 16131425
DOI: 10.1007/s11910-005-0066-4

Genes

APTX
ATM
MRE11
SETX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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