Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxi...

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Autores principales: Sevin, Caroline, Ferdinandusse, Sacha, Waterham, Hans R, Wanders, Ronald J, Aubourg, Patrick
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617/
https://www.ncbi.nlm.nih.gov/pubmed/21392394
http://dx.doi.org/10.1186/1750-1172-6-8
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author Sevin, Caroline
Ferdinandusse, Sacha
Waterham, Hans R
Wanders, Ronald J
Aubourg, Patrick
author_facet Sevin, Caroline
Ferdinandusse, Sacha
Waterham, Hans R
Wanders, Ronald J
Aubourg, Patrick
author_sort Sevin, Caroline
collection PubMed
description OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX genes revealed a homozygous c.865_866insA mutation in the PEX2 gene leading to a frameshift 17 codons upstream of the stop codon. PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum disorders). CONCLUSIONS: Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA.
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spelling pubmed-30646172011-03-26 Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene Sevin, Caroline Ferdinandusse, Sacha Waterham, Hans R Wanders, Ronald J Aubourg, Patrick Orphanet J Rare Dis Case Report OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX genes revealed a homozygous c.865_866insA mutation in the PEX2 gene leading to a frameshift 17 codons upstream of the stop codon. PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum disorders). CONCLUSIONS: Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA. BioMed Central 2011-03-10 /pmc/articles/PMC3064617/ /pubmed/21392394 http://dx.doi.org/10.1186/1750-1172-6-8 Text en Copyright ©2011 Sevin et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sevin, Caroline
Ferdinandusse, Sacha
Waterham, Hans R
Wanders, Ronald J
Aubourg, Patrick
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
title Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
title_full Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
title_fullStr Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
title_full_unstemmed Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
title_short Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
title_sort autosomal recessive cerebellar ataxia caused by mutations in the pex2 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617/
https://www.ncbi.nlm.nih.gov/pubmed/21392394
http://dx.doi.org/10.1186/1750-1172-6-8
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AT wandersronaldj autosomalrecessivecerebellarataxiacausedbymutationsinthepex2gene
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