THE GENE FOR MACHADO-JOSEPH DISEASE MAPS TO HUMAN CHROMOSOME-14Q

Machado-Joseph disease (MJD) is an autosomal dominant, multisystem neu rodegenerative disorder involving predominantly cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems. Although it was first reported in families of Portuguese-Azorean descent, MJD has also been described in non-Azorean families from various countries, being one of the most common hereditary spinocerebellar degenerations. With the use of highly polymorphic microsatellite DNA polymorphisms, we hav e assigned the gene for MJD to the long arm of chromosome 14 (14q24.3- q32) by genetic linkage to microsatellite loci D14S55 and D14S48 (mult ipoint lod score Z(max) = 9.719).