Clinical and genetic analysis of spinocerebellar ataxia type 11.

The Cerebellum
Janel JohnsonHenry Houlden

Abstract

The autosomal dominant cerebellar ataxias (ADCAs) are a genetically heterogeneous group of disorders. Clinical classification of the ADCAs into three types has facilitated defining phenotypes and in turn, linkage analysis, which has led to the discovery of 30 loci and 16 genes. The type III ADCAs are 'pure' spinocerebellar ataxias (SCA), those that appear to elude neurological features outside of the cerebellum. At present 3 ADCA type III SCA genes have been published, SCA5, SCA6, and SCA14, these three genes appear to have various roles suggesting involvement in both different and possibly overlapping neurodegenerative pathways. The known ADCAIII genes are thought to have such roles as involvement in signal transduction, cell proliferation, synaptic transmission, and channel regulation. Here we update readers on the current progress on SCA11 and the identification of the disease gene. We discuss the clinical, genetic, and pathological details of SCA11--a locus at chromosome 15q14-q21.3 in a Caucasian family of British ancestry. We also discuss the refining of this region, and methods used to prioritize the screening of the over 130 candidate genes in this genomic region.

References

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Citations

Sep 22, 2009·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Qian XuBeisha Tang
Nov 6, 2009·The Cerebellum·Antoni Matilla-DueñasPilar Latorre
Aug 5, 2009·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Josef Finsterer
Mar 17, 2010·Trends in Neurosciences·Stephanie SchorgeJohn Hardy
Jul 1, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Anne WeissbachKatja Lohmann
May 9, 2014·Frontiers in Molecular Neuroscience·Seiko Ikezu, Tsuneya Ikezu
May 12, 2016·The Cerebellum·Suzanne Granhøj LindquistLena Elisabeth Hjermind
Sep 6, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yan DengXueliang Qi
Mar 5, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Francesca RosiniAlessandra Rufa

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