Apr 5, 2018
The Machado-Joseph Disease, or spinocerebellar ataxia type 3, is
one of the few eponyms in medicine whereby the disease is named
after the patient and not the physician who originally described
it. But someone else's name is missing from the eponym: Thomas. And
the alternative title for the condition, "spinocerebellar ataxia,"
also happens to be a bit of a misnomer. In this week's installment
of BrainWaves, we review the history and clinical manifestations of
this movement disorder.
Produced by James E. Siegler. Music by Ian Southerland, Mike
Durek, and Ondrosik. Voiceover by Erika Mejia. BrainWaves' podcasts
and online content are intended for medical education only and
should not be used for clinical decision making.
- Matilla T, McCall A, Subramony SH and Zoghbi HY. Molecular and
clinical correlations in spinocerebellar ataxia type 3 and
Machado-Joseph disease. Annals of neurology.
- Pedroso JL, Franca MC, Braga-Neto P, D'Abreu A, Saraiva-Pereira
ML, Saute JA, Teive HA, Caramelli P, Jardim LB, Lopes-Cendes I and
Barsottini OGP. Nonmotor and extracerebellar features in
Machado-Joseph disease: A review. Movement Disord.
- Shakkottai VG and Fogel BL. Clinical neurogenetics: autosomal
dominant spinocerebellar ataxia. Neurol Clin.
- Paulson HL. Dominantly inherited ataxias: lessons learned from
Machado-Joseph disease/spinocerebellar ataxia type 3. Semin
- Ashizawa T and Xia G. Ataxia. Continuum (Minneap
- Rosenberg RN. Machado-Joseph disease: an autosomal dominant
motor system degeneration. Mov Disord.