Rebecca TwellsPa Thai YenchitsomanusChintanta SirinavinRebecca AlloteyNiphon RoungvarinAdulya ViriyavejakulCemal CemalJames WeberMartin FarrallPraklt RodprasertNaraporn PrayoonwiwatRobert WilliamsonSusan ChamberlainImperial College LondonMedical Molecular Biology Center Faculty of MedicineDivision of Medical GeneticsMahidol UniversityMarshfield ClinicImperial College Faculty of Medicine2018-02-272018-02-271994-01-01Human Molecular Genetics. Vol.3, No.1 (1994), 177-180096469062-s2.0-0028158775https://repository.li.mahidol.ac.th/handle/20.500.14594/9544The 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1093/hmg/3.1.177