Machado–Joseph disease/spinocerebellar ataxia type 3
H Paulson - Handbook of clinical neurology, 2012 - Elsevier
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review
historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish
with a brief discussion of present, and possible future, treatment for this currently incurable
disorder. Like many other dominantly inherited ataxias, MJD/SCA3 shows remarkable
clinical heterogeneity, reflecting the underlying genetic defect: an unstable CAG …
(SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review
historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish
with a brief discussion of present, and possible future, treatment for this currently incurable
disorder. Like many other dominantly inherited ataxias, MJD/SCA3 shows remarkable
clinical heterogeneity, reflecting the underlying genetic defect: an unstable CAG …