Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus

被引:57
作者
Dudding, TE
Friend, K
Schofield, PW
Lee, S
Wilkinson, IA
Richards, RI
机构
[1] Hunter Genet, Newcastle, NSW, Australia
[2] Univ Newcastle, Ctr Mental Hlth Studies, Newcastle, NSW 2308, Australia
[3] Womens & Childrens Hosp N Adelaide, Adelaide, SA, Australia
[4] Hunter Mental Hlth & Psychol Dept, Neuropsychiat Serv, Newcastle, NSW, Australia
[5] John Hunter Childrens Hosp, Newcastle, NSW, Australia
[6] Univ Adelaide, Sch Mol & Biomed Sci, ARC Special Res Ctr Mol Genet Dev, Adelaide, SA 5005, Australia
关键词
D O I
10.1212/01.WNL.0000147299.80872.D1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Background: Most patients with pure nonprogressive congenital cerebellar ataxia have a sporadic form of unknown heredity and etiology. Several small families have been reported with a dominantly inherited nonprogressive congenital ataxia ( NPCA). Methods: The authors ascertained and clinically characterized a four-generation pedigree segregating an autosomal dominant type of congenital nonprogressive cerebellar ataxia associated with cognitive impairment. Following the exclusion of several SCA localizations (SCA-1, 2, 3, 4, 5, 6, 7, 8, 10, 12, 17, IOSCA, and DRPLA), a genome-wide linkage study was performed. Results: Examination of the family showed that all affected members had gait ataxia and cognitive disability with variable features of dysarthria, dysmetria, dysdiadochokinesia, nystagmus, dystonic movements, and cerebellar hypoplasia on imaging. Clinical signs of pyramidal tract dysfunction and sensory changes were absent. A genome-wide search in this family detected linkage to chromosome 3p with a maximum two-point lod score of 4.26 at D3S3630. This localization to the pter is distal to D3S1304, as defined by a recombination event. This overlaps with the SCA15 locus, with the critical overlapping region between the microsatellite markers, D3S1304 and D3S1620 (approximately 8 cM). Conclusion: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter.
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页码:2288 / 2292
页数:5
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