title: Mutations in PEX10 are a cause of autosomal recessive ataxia.
abstract: Peroxisomal biogenesis disorders typically cause severe multisystem disease and early death. We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense. Both patients had marked cerebellar atrophy. Peroxisomal studies revealed a peroxisomal biogenesis disorder. Two mutations in PEX10 were found in the child, c.992G>A (novel) and c.764_765insA, and in the adult, c.2T>C (novel) and c.790C>T. Transfection with wild-type PEX10 corrected the fibroblast phenotype. Bile acid supplements and dietary restriction of phytanic acid were started. Peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia.
authors.affiliation: Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium. Luc.regal@uz.kuleuven.ac.be
authors.forename: Luc
authors.initials: L
authors.lastname: Régal
authors.forename: Merel S
authors.initials: MS
authors.lastname: Ebberink
authors.forename: Nathalie
authors.initials: N
authors.lastname: Goemans
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.forename: Jacques
authors.initials: J
authors.lastname: Jaeken
authors.forename: Maarten
authors.initials: M
authors.lastname: Schrooten
authors.forename: Rudy
authors.initials: R
authors.lastname: Van Coster
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
mesh_terms: D002478:Cells, Cultured; D002648:Child; D025063:Chromosome Disorders / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D055815:Young Adult
chemical_list: C116156:PEX10 protein, human; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear