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Matsuura, Fang, Pearson, Jayakar, Ashizawa, Roa, Nelson: "Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?" in: American journal of human genetics, Vol. 78, Issue 1, pp. 125-9, (2005) (PubMed).
Wiemann, Weil, Wellenreuther, Gassenhuber, Glassl, Ansorge, Böcher, Blöcker, Bauersachs, Blum, Lauber, Düsterhöft, Beyer, Köhrer, Strack, Mewes, Ottenwälder, Obermaier, Tampe, Heubner, Wambutt, Korn et al.: "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. ..." in: Genome research, Vol. 11, Issue 3, pp. 422-35, (2001) (PubMed).
Matsuura, Yamagata, Burgess, Rasmussen, Grewal, Watase, Khajavi, McCall, Davis, Zu, Achari, Pulst, Alonso, Noebels, Nelson, Zoghbi, Ashizawa: "Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10." in: Nature genetics, Vol. 26, Issue 2, pp. 191-4, (2000) (PubMed).
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 signs from other components of the nervous system. Defects in ATXN10 are the cause of spinocerebellar ataxia type 10. SCA10 is an autosomal dominant disorder and is predominantly characterized by cerebellar ataxia seizures. In addition patients often show soft pyramidal signs, ocular dyskinesia, cognitive impairment, and/or behavioral disturbances. SCA10 has been recognized only in families of Mexican origin. The molecular basis of the disease is due to an ATTCT nucleotide repeat expansion in intron 9.