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Mutations in PEX10 are a cause of autosomal recessive ataxia

Luc Régal, Merel S Ebberink, Nathalie Goemans, Ronald JA Wanders, Linda De Meirleir, Jacques Jaeken, Maarten Schrooten, Rudy Van Coster UGent and Hans R Waterham (2010) ANNALS OF NEUROLOGY. 68(2). p.259-263
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
PATIENT, PHENOTYPE, DEFECT, FIBROBLASTS, PEROXISOME BIOGENESIS DISORDERS, METABOLISM
journal title
ANNALS OF NEUROLOGY
Ann. Neurol.
volume
68
issue
2
pages
259 - 263
Web of Science type
Article
Web of Science id
000280721500021
JCR category
CLINICAL NEUROLOGY
JCR impact factor
10.746 (2010)
JCR rank
2/185 (2010)
JCR quartile
1 (2010)
ISSN
0364-5134
DOI
10.1002/ana.22035
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1061233
handle
http://hdl.handle.net/1854/LU-1061233
date created
2010-10-20 16:35:18
date last changed
2016-12-19 15:46:27
@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},
}

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.