The gene for Machado–Joseph disease maps to human chromosome 14q

Abstract

Machado–Joseph disease (MJD) is an autosomal dominant, multisystem neurodegenerative 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 have assigned the gene for MJD to the long arm of chromosome 14 (14q24.3–q32) by genetic linkage to microsatellite loci D14S55 and D14S48 (multipoint lod score Z_max=9.719).