| Autor: |
Wanders Ronald J, Waterham Hans R, Ferdinandusse Sacha, Sevin Caroline, Aubourg Patrick |
| Jazyk: |
angličtina |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 8 (2011) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/1750-1172-6-8 |
| Popis: |
Abstract 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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