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Article

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

European journal of neurology - 1 Mar 2013

Hammer M B, Eleuch-Fayache G, Gibbs J R, Arepalli S K, Chong S B, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton A B

Abstract excerpt

BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA. METHODS: To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing. RESULTS: We identified a new mutation in the SACS gene and a...

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Source

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Identifiers

PMID: 23043354
DOI: 10.1111/j.1468-1331.2012.03883.x
PMCID: PMC4669564

Genes

APOB
SACS
SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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