title: Clinical and genetic analysis of spinocerebellar ataxia type 11.
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.
authors.affiliation: Neurogenetics, Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Janel
authors.initials: J
authors.lastname: Johnson
authors.forename: Nicholas
authors.initials: N
authors.lastname: Wood
authors.forename: Paola
authors.initials: P
authors.lastname: Giunti
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
mesh_terms: D001284:Atrophy; D001921:Brain / Q000473:pathology; D015220:Calcium Channels / Q000235:genetics; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D010802:Phylogeny; D013049:Spectrin / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D013049:Spectrin; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type; C495133:SPTBN2 protein, human