#103 The Machado-Joseph Disease

BrainWaves: A Neurology Podcast

• Episode: #103 The Machado-Joseph Disease
• Website: BrainWaves: A Neurology Podcast
• Feed URL: http://feeds.soundcloud.com/users/soundcloud:users:214831941/sounds.rss
• Duration: 00:14:16
• Published: 2018-04-05 11:00

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.

REFERENCES

1. 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. 1995;38:68-72.
2. 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. 2013;28:1200-1208.
3. Shakkottai VG and Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin. 2013;31:987-1007.
4. Paulson HL. Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3. Semin Neurol. 2007;27:133-42.
5. Ashizawa T and Xia G. Ataxia. Continuum (Minneap Minn). 2016;22:1208-26.
6. Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord. 1992;7:193-203.