Work

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Year: 2011

Type: article

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.

Source: Orphanet Journal of Rare Diseases

DOI: 10.1186/1750-1172-6-8

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

Institutions: Inserm, Hôpital Saint-Vincent-de-Paul, Amsterdam UMC Location University of Amsterdam, University of Amsterdam

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,990