A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
Mov Disord.. 2014-12-27; 30(2): 262-266
DOI: 10.1002/mds.26059
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1. Mov Disord. 2015 Feb;30(2):262-6. doi: 10.1002/mds.26059. Epub 2014 Dec 27.
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel
spastic ataxia syndrome.
Johnson JO(1), Stevanin G, van de Leemput J, Hernandez DG, Arepalli S, Forlani S,
Zonozi R, Gibbs JR, Brice A, Durr A, Singleton AB.
Author information:
(1)Laboratory of Neurogenetics, National Institute on Aging, National Institutes
of Health, Bethesda, MD, USA; Department of Molecular Neuroscience and Reta Lila
Weston Institute of Neurological Studies, Institute of Neurology, University
College London, Queen Square, London, UK.
BACKGROUND: The autosomal dominant spinocerebellar ataxias are most commonly
caused by nucleotide repeat expansions followed by base-pair changes in
functionally important genes. Structural variation has recently been shown to
underlie spinocerebellar ataxia types 15 and 20.
METHODS: We applied single-nucleotide polymorphism (SNP) genotyping to determine
whether structural variation causes spinocerebellar ataxia in a family from
France.
RESULTS: We identified an approximately 7.5-megabasepair duplication on
chromosome 11q21-11q22.3 that segregates with disease. This duplication contains
an estimated 44 genes. Duplications at this locus were not found in control
individuals.
CONCLUSIONS: We have identified a new spastic ataxia syndrome caused by a genomic
duplication, which we have denoted as spinocerebellar ataxia type 39. Finding
additional families with this phenotype will be important to identify the genetic
lesion underlying disease.
© 2014 International Parkinson and Movement Disorder Society.
DOI: 10.1002/mds.26059
PMCID: PMC4318767
PMID: 25545641 [Indexed for MEDLINE]