Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
The American Journal of Human Genetics. 2000-07-01; 67(1): 229-235
DOI: 10.1086/302958
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1. Am J Hum Genet. 2000 Jul;67(1):229-35. Epub 2000 May 11.
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with
autosomal dominant cerebellar ataxia and mental retardation.
Herman-Bert A(1), Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat
A, Yuan Q, Schalling M, Dürr A, Brice A.
Author information:
(1)INSERM U289, Hôpital de la Salpêtrière, Paris, France.
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 approximately 8-cM interval between markers
D19S219 and D19S553.
DOI: 10.1086/302958
PMCID: PMC1287081
PMID: 10820125 [Indexed for MEDLINE]