Document Detail

Mutations in PEX10 are a cause of autosomal recessive ataxia.
MedLine Citation:
PMID:  20695019     Owner:  NLM     Status:  MEDLINE    
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.
Luc Régal; Merel S Ebberink; Nathalie Goemans; Ronald J A Wanders; Linda De Meirleir; Jacques Jaeken; Maarten Schrooten; Rudy Van Coster; Hans R Waterham
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Annals of neurology     Volume:  68     ISSN:  1531-8249     ISO Abbreviation:  Ann. Neurol.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-08-09     Completed Date:  2010-10-14     Revised Date:  2010-12-18    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  259-63     Citation Subset:  IM    
Department of Pediatrics, Metabolic Center, University Hospital Leuven, Belgium.
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MeSH Terms
Cells, Cultured
Chromosome Disorders / diagnosis,  diet therapy,  genetics*
Genes, Recessive / genetics*
Genetic Predisposition to Disease / genetics*
Mutation / genetics*
Receptors, Cytoplasmic and Nuclear / genetics*
Spinocerebellar Degenerations / diagnosis,  diet therapy,  genetics*
Young Adult
Reg. No./Substance:
0/PEX10 protein, human; 0/Receptors, Cytoplasmic and Nuclear

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