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Mutations in PEX10 are a cause of autosomal recessive ataxia
Author(s) -
Régal Luc,
Ebberink Merel S.,
Goemans Nathalie,
Wanders Ronald J. A.,
De Meirleir Linda,
Jaeken Jacques,
Schrooten Maarten,
Van Coster Rudy,
Waterham Hans R.
Publication year - 2010
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.22035
Subject(s) - phytanic acid , ataxia , peroxisome , peroxisomal disorder , biogenesis , cerebellar ataxia , atrophy , mutation , biology , adrenoleukodystrophy , endocrinology , medicine , genetics , neuroscience , gene
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. ANN NEUROL 2010;68:259–263