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Title: Autosomal dominant cerebellar ataxia with dementla: Evidence for a fourth disease locus
Authors: 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
Imperial College London
Medical Molecular Biology Center Faculty of Medicine
Division of Medical Genetics
Mahidol University
Marshfield Clinic
Imperial College Faculty of Medicine
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Jan-1994
Citation: Human Molecular Genetics. Vol.3, No.1 (1994), 177-180
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.
ISSN: 09646906
Appears in Collections:Scopus 1991-2000

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