Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation

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• 作者：Alex ; ra Herman-Bert ; Giovanni Stevanin ; Jean-Claude Netter ; Olivier Rascol ; David Brassat ; Patrick Calvas ; Agnè ; s Camuzat ; Qiu-ping Yuan ; Martin Schalling ; Alex ; ra Dü ; rr ; Alexis Brice
• 刊名：The American Journal of Human Genetics
• 出版年：2000
• 出版时间：July 2000
• 年：2000
• 卷：67
• 期：1
• 页码：229-235
• 全文大小：390 K

文摘

We examined a large French family with autosomal dominant cerebellar ataxia (ADCA) that was excluded from all previously identified spinocerebellar ataxia genes and loci. The patients—seven women and a 4-year-old boy—exhibited slowly progressive childhood-onset cerebellar gait ataxia associated with cerebellar dysarthria, moderate mental retardation (IQ 62–76), and mild developmental delays in motor acquisition. Nystagmus and pyramidal signs were also observed in some cases. This unique association of clinical features clearly distinguishes this new entity from other previously described ADCA. Cerebral magnetic-resonance imaging showed moderate cerebellar and pontine atrophy in two patients. We performed a genomewide search and found significant evidence for linkage to chromosome 19q13.3-q13.4, in an 8-cM interval between markers D19S219 and D19S553.