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Article

Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family.

Journal of neurogenetics - 1 Jan 2008

Bouhlal Yosr, Zouari Mourad, Kefi Mounir, Ben Hamida Christiane, Hentati Fayçal, Amouri Rim

Abstract excerpt

Autosomal recessive cerebellar ataxias are a group of clinically and genetically heterogeneous neurodegenerative disorders. Growing data have shown that there is difficulty with genetic counseling in a deeply consanguineous population because of the presence of genetic heterogeneity in patients sharing similar phenotypes. The objective of this study was to report on 11 Tunisian patients belonging to the same...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18569450
DOI: 10.1080/01677060802025233

Genes

FXN
SACS
TTPA

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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