A Third Locus for Autosomal Dominant Cerebellar Ataxia Type 1 Maps to Chromosome 14q24.3-qter: Evidence for the Existence of a Fourth Locus |
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| Authors: | Giovanni Stevanin Eric Le Guern Nicole Ravis Herv Chneiweiss Alexandra Dürr Graldine Cancel Alain Vignal Anne-Laure Boch Merle Ruberg Christiane Penet Yolaine Pothin Isabelle Lagroua Michel Haguenau Grald Rancurel Jean Weissenbach Yves Agid and Alexis Brice |
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| Institution: | Giovanni Stevanin, Eric Le Guern, Nicole Ravisé, Hervé Chneiweiss, Alexandra Dürr, Géraldine Cancel, Alain Vignal, Anne-Laure Boch, Merle Ruberg, Christiane Penet, Yolaine Pothin, Isabelle Lagroua, Michel Haguenau, Gérald Rancurel, Jean Weissenbach, Yves Agid, and Alexis Brice |
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| Abstract: | The autosomal dominant cerebellar ataxias (ADCA) type I are a group of neurological disorders that are clinically and genetically heterogeneous. Two genes implicated in the disease, SCA1 (spinal cerebellar ataxia 1) and SCA2, are already localized. We have mapped a third locus to chromosome 14q24.3-qter, by linkage analysis in a non-SCA1/non-SCA2 family and have confirmed its existence in a second such family. We suggest designating this new locus “SCA3.” Combined analysis of the two families restricted the SCA3 locus to a 15-cM interval between markers D14S67 and D14S81. The gene for Machado-Joseph disease (MJD), a clinically different form of ADCA type I, has been recently assigned to chromosome 14q24.3-q32. Although the SCA3 locus is within the MJD region, linkage analyses cannot yet demonstrate whether they result from mutations of the same gene. Linkage to all three loci (SCA1, SCA2, and SCA3) was excluded in another family, which indicates the existence of a fourth ADCA type I locus. |
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