Mutations in PEX10 are a cause of autosomal recessive ataxia.
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.
Régal
Luc
L
Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium. Luc.regal@uz.kuleuven.ac.be
Ebberink
Merel S
MS
Goemans
Nathalie
N
Wanders
Ronald J A
RJ
De Meirleir
Linda
L
Jaeken
Jacques
J
Schrooten
Maarten
M
Van Coster
Rudy
R
Waterham
Hans R
HR
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
C116156:PEX10 protein, human; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear