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|Title:||Autosomal dominant cerebellar ataxia with dementla: Evidence for a fourth disease locus|
Pa Thai Yenchitsomanus
Imperial College London
Medical Molecular Biology Center Faculty of Medicine
Division of Medical Genetics
Imperial College Faculty of Medicine
|Keywords:||Biochemistry, Genetics and Molecular Biology;Medicine|
|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.|
|Appears in Collections:||Scopus 1991-2000|
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