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DNA Test for spinocerebellar ataxia type 10 (SCA10)

详细技术说明

Publications:Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T., Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 Oct;26(2):191-4.Lin X, Ashizawa T., SCA10 and ATTCT repeat expansion: clinical features and molecular aspects. Cytogenet Genome Res. 2003;100(1-4):184-8.Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T., Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10., Am J Hum Genet. 2004 Jun;74(6):1216-24.Lin X, Ashizawa T., Recent progress in spinocerebellar ataxia type-10 (SCA10). Cerebellum. 2005;4(1):37-42.

*Abstract

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of dysfunction in other components of the nervous system.SCA10 was distinguished origihally by linkage. The developers have found that SCA10 is a result of a large expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene.OMIM 603516

国家/地区

美国