We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Mutations in PEX10 are a cause of autosomal recessive ataxia.
- Authors
Régal, Luc; Ebberink, Merel S.; Goemans, Nathalie; Wanders, Ronald J. A.; De Meirleir, Linda; Jaeken, Jacques; Schrooten, Maarten; Van Coster, Rudy; Waterham, Hans R.
- 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. ANN NEUROL 2010;68:259-263
- Publication
Annals of Neurology, 2010, Vol 68, Issue 2, p259
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.22035