Unknown

Dataset Information

0

Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.

ABSTRACT: 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.

SUBMITTER: Herman-Bert A 

PROVIDER: S-EPMC1287081 | biostudies-literature | 2000 Jul

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

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 A   Stevanin G G   Netter J C JC   Rascol O O   Brassat D D   Calvas P P   Camuzat A A   Yuan Q Q   Schalling M M   Dürr A A   Brice A A  

American journal of human genetics 20000511 1

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 associat  ...[more]

Similar Datasets

Unknown Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
| S-EPMC2849979 | biostudies-literature
Unknown The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
| S-EPMC3914474 | biostudies-literature
Unknown Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
| S-EPMC3545966 | biostudies-literature
Unknown Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
| S-EPMC3465691 | biostudies-literature
Unknown Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
| S-EPMC2864955 | biostudies-literature
Unknown Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
| S-EPMC3155161 | biostudies-literature
Unknown Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.
| S-EPMC1288574 | biostudies-literature
Unknown Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.
| S-EPMC1377940 | biostudies-other
Unknown Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
| S-EPMC5011850 | biostudies-literature
Unknown A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13.
| S-EPMC384953 | biostudies-literature