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Mutations in PEX10 are a cause of autosomal recessive ataxia

(2010) ANNALS OF NEUROLOGY. 68(2). p.259-263
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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.
Keywords
PATIENT, PHENOTYPE, DEFECT, FIBROBLASTS, PEROXISOME BIOGENESIS DISORDERS, METABOLISM

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Chicago
Régal, Luc, Merel S Ebberink, Nathalie Goemans, Ronald JA Wanders, Linda De Meirleir, Jacques Jaeken, Maarten Schrooten, Rudy Van Coster, and Hans R Waterham. 2010. “Mutations in PEX10 Are a Cause of Autosomal Recessive Ataxia.” Annals of Neurology 68 (2): 259–263.
APA
Régal, L., Ebberink, M. S., Goemans, N., Wanders, R. J., De Meirleir, L., Jaeken, J., Schrooten, M., et al. (2010). Mutations in PEX10 are a cause of autosomal recessive ataxia. ANNALS OF NEUROLOGY, 68(2), 259–263.
Vancouver
1.
Régal L, Ebberink MS, Goemans N, Wanders RJ, De Meirleir L, Jaeken J, et al. Mutations in PEX10 are a cause of autosomal recessive ataxia. ANNALS OF NEUROLOGY. 2010;68(2):259–63.
MLA
Régal, Luc, Merel S Ebberink, Nathalie Goemans, et al. “Mutations in PEX10 Are a Cause of Autosomal Recessive Ataxia.” ANNALS OF NEUROLOGY 68.2 (2010): 259–263. Print.
@article{1061233,
  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{\textrangle}A (novel) and c.764\_765insA, and in the adult, c.2T{\textrangle}C (novel) and c.790C{\textrangle}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.},
  author       = {R{\'e}gal, Luc and Ebberink, Merel S and Goemans, Nathalie and Wanders, Ronald JA and De Meirleir, Linda and Jaeken, Jacques and Schrooten, Maarten and Van Coster, Rudy and Waterham, Hans R},
  issn         = {0364-5134},
  journal      = {ANNALS OF NEUROLOGY},
  keyword      = {PATIENT,PHENOTYPE,DEFECT,FIBROBLASTS,PEROXISOME BIOGENESIS DISORDERS,METABOLISM},
  language     = {eng},
  number       = {2},
  pages        = {259--263},
  title        = {Mutations in PEX10 are a cause of autosomal recessive ataxia},
  url          = {http://dx.doi.org/10.1002/ana.22035},
  volume       = {68},
  year         = {2010},
}

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