Publication: Autosomal dominant cerebellar ataxia with dementla: Evidence for a fourth disease locus
Issued Date
1994-01-01
Resource Type
ISSN
09646906
Other identifier(s)
2-s2.0-0028158775
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Mahidol University
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SCOPUS
Bibliographic Citation
Human Molecular Genetics. Vol.3, No.1 (1994), 177-180
Suggested Citation
Rebecca Twells, Pa Thai Yenchitsomanus, Chintanta Sirinavin, Rebecca Allotey, Niphon Roungvarin, Adulya Viriyavejakul, Cemal Cemal, James Weber, Martin Farrall, Praklt Rodprasert, Naraporn Prayoonwiwat, Robert Williamson, Susan Chamberlain Autosomal dominant cerebellar ataxia with dementla: Evidence for a fourth disease locus. Human Molecular Genetics. Vol.3, No.1 (1994), 177-180. doi:10.1093/hmg/3.1.177 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/9544
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Title
Autosomal dominant cerebellar ataxia with dementla: Evidence for a fourth disease locus
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 heterogenelty 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 for these disorders. © 1994 Oxford University Press.