马查多-约瑟夫病

Also known as Azorean disease (disorder), MJD, spinocerebellar ataxia type 3, spinocerebellar ataxia 3, Azorean disease, Nigrospinodentatal Degeneration, MACHADO-JOSEPH DISEASE; MJD, Autosomal dominant striatonigral degeneration

autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene