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BrainWaves #103 Machado-Joseph disease

MedLink Neurology Podcast is delighted to feature selected episodes from BrainWaves, courtesy of James E Siegler MD, its originator and host. BrainWaves is an academic audio podcast whose mission is to educate medical providers through clinical cases and topical reviews in neurology, medicine, and the humanities, and episodes originally aired from 2016 to 2021.

Originally released: April 5, 2018

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.


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Matilla T, McCall A, Subramony SH, Zoghbi HY. Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease. Ann Neurol 1995;38(1):68-72. PMID 7611728

Paulson HL. Dominantly inherited ataxias: lessons learned from Machado-Joseph disease/spinocerebellar ataxia type 3. Semin Neurol 2007;27(2):133-42. PMID 17390258

Pedroso JL, França MC Jr, Braga-Neto P, et al. Nonmotor and extracerebellar features in Machado-Joseph disease: a review. Mov Disord 2013;28(9):1200-8. PMID 23775899

Rosenberg RN. Machado-Joseph disease: an autosomal dominant motor system degeneration. Mov Disord 1992;7(3):193-203. PMID 1620135

Shakkottai VG, Fogel BL. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia. Neurol Clin 2013;31(4):987-1007. PMID 24176420

We believe that the principles expressed or implied in the podcast remain valid, but certain details may be superseded by evolving knowledge since the episode's original release date.

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