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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Annals of Human Genetics
Article . 2013 . Peer-reviewed
License: Wiley TDM
Data sources: Crossref
Annals of Human Genetics
Article . 2014 . Peer-reviewed
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A NovelGBA2Gene Missense Mutation in Spastic Ataxia

NovelGBA2Gene Mutation
Authors: Kyproula Christodoulou; Eleni Zamba-Papanicolaou; Marios Pantzaris; Lefkos T. Middleton; Lefkos T. Middleton; Christina Votsi;

A NovelGBA2Gene Missense Mutation in Spastic Ataxia

Abstract

Autosomal recessive cerebellar ataxias (ARCA) encompass a heterogeneous group of rare diseases that affect the cerebellum, the spinocerebellar tract and/or the sensory tracts of the spinal cord. We investigated a consanguineous Cypriot family with spastic ataxia, aiming towards identification of the causative mutation. Family members were clinically evaluated and studied at the genetic level. Linkage analysis at marker loci spanning known ARCA genes/loci revealed linkage to the APTX locus. Thorough investigation of the APTX gene excluded any possible mutation. Whole genome linkage screening using microsatellite markers and whole genome SNP homozygosity mapping using the Affymetrix Genome-Wide Human SNP Array 6.0 enabled mapping of the disease gene/mutation in this family to Chromosome 9p21.1-p13.2. Due to the large number of candidate genes within this region, whole-exome sequencing of the proband was performed and further analysis of the obtained data focused on the mapped interval. Further investigation of the candidate variants resulted in the identification of a novel missense mutation in the GBA2 gene. GBA2 mutations have recently been associated with hereditary spastic paraplegia and ARCA with spasticity. We hereby report a novel GBA2 mutation associated with spastic ataxia and suggest that GBA2 mutations may be a relatively frequent cause of ARCA.

Keywords

Genetic Markers, Male, Adolescent, Cerebellar Ataxia, Genotype, Genetic Linkage, Mutation, Missense, Genes, Recessive, Consanguinity, Intellectual Disability, Humans, Age of Onset, Chromosome Mapping, Optic Atrophy, Genetic Loci, Muscle Spasticity, Glucosylceramidase, Female, Genome-Wide Association Study, Microsatellite Repeats

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
40
Top 10%
Top 10%
Top 10%