A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.

Janel O. Johnson, Giovanni Stevanin, Joyce van de Leemput, Dena G. Hernandez, Sampath Arepalli, Sylvie Forlani, Reza Zonozi, J. Raphael Gibbs, Alexis Brice, Alexandra Durr, Andrew B. Singleton
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]

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