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Orphanet Journal of Rare Diseases

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Open Access 01-12-2011 | Case Report

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Authors: Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, Ronald J Wanders, Patrick Aubourg

Published in: Orphanet Journal of Rare Diseases | Issue 1/2011

Abstract

Objective

To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).

Case report

Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX genes revealed a homozygous c.865_866insA mutation in the PEX2 gene leading to a frameshift 17 codons upstream of the stop codon. PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum disorders).

Conclusions

Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA.

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Title: Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Authors: Caroline Sevin
Sacha Ferdinandusse
Hans R Waterham
Ronald J Wanders
Patrick Aubourg
Publication date: 01-12-2011
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2011
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-6-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Abstract

Objective

Case report

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objective

Case report

Conclusions

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