Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1994 Jan;3(1):177-80.
doi: 10.1093/hmg/3.1.177.

Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus

R Twells  1 , P T Yenchitsomanus, C Sirinavin, R Allotey, N Poungvarin, A Viriyavejakul, C Cemal, J Weber, M Farrall, P Rodprasert, et al.
Affiliations
Case Reports

Autosomal dominant cerebellar ataxia with dementia: evidence for a fourth disease locus

R Twells et al. Hum Mol Genet. 1994 Jan.

Abstract

The autosomal dominant cerebellar ataxias have proved particularly difficult to classify due to the lack of phenotypic concordance both within and between families. Genetic heterogeneity has been established, and disease loci for spinal cerebellar ataxia have been assigned to chromosomes 6 (SCA1), 12 (SCA2) and 14 (Machado Joseph disease (MJD)). Genetic analysis performed on a large Thai kindred with autosomal dominant cerebellar ataxia, in which frontal lobe signs and dementia are commonly observed in affected family members, exclude linkage to the SCA1, SCA2 and MJD loci. This demonstrates that mutation in at least one further locus can cause spinal cerebellar ataxia, indicating the need for caution in the use of markers for predictive testing or prenatal diagnosis these disorders.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

Publication types