Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Open accessAbstract
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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In the mildest forms of the Zellweger spectrum, patients can survive into adulthood.
“In the mildest forms of the Zellweger spectrum, patients can survive into adulthood [47,58,59].”
From Peroxisomes in brain development and function (2016) · cites this paper as [59]
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Peroxisomes in brain development and function
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- Authors
- Sevin, C., Ferdinandusse, S., Waterham, H. R., Wanders, R. J., & Aubourg, P.
- Affiliations
- Inserm (FR)
- Amsterdam UMC Location University of Amsterdam (NL)
- Hôpital Saint-Vincent-de-Paul (FR)
- Corresponding author
- Sevin, Caroline
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2011-03-10
- Volume
- 6
- Issue
- 1
- Pages
- 8-8
- ISSN
- 1750-1172 (ISSN-L)
- PMC
- PMC3064617
- OpenAlex
- W2146084049
- Cited by
- 66
- References
- 16
- Citations by year
- 2022: 5 · 2021: 3 · 2020: 3 · 2019: 4 · 2018: 8 · 2017: 7 · 2016: 8 · 2015: 8 · 2014: 7 · 2013: 4 · 2012: 8
- FWCI
- 3.63
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Orphanet Journal of Rare Diseases (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- UvA-DARE (University of Amsterdam) (publishedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion, other-oa)
- UvA-DARE (University of Amsterdam) (submittedVersion, other-oa)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- autosomal recessive cerebellar ataxia, peroxisome biogenesis disorders, frameshift mutation, Zellweger spectrum disorder, genetic screening
- MeSH terms
- Peroxisomal Biogenesis Factor 2, Adolescent, Cerebellar Ataxia, Child, Preschool, DNA, Genes, Recessive, Humans, Male, Membrane Proteins, Frameshift Mutation, Sequence Analysis, DNA
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