Related Experiment Video
Updated: Jun 3, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Caroline Sevin1, Sacha Ferdinandusse, Hans R Waterham
1Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France. caroline.sevin@inserm.fr
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.
Related Concept Videos
Protein Import into the Peroxisomes
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Pedigree Analysis
Inborn Errors of Metabolism
Pleiotropy
Sex-linked Disorders
Incomplete Dominance

