[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia]

Medicina (B Aires). 2013;73(6):552-4.
[Article in Spanish]


Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.

Keywords: Machado Joseph disease; SCA-3; ataxia; genetics; hereditary spastic paraplegia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ataxin-3
  • Diagnosis, Differential
  • Female
  • Humans
  • Machado-Joseph Disease / diagnosis
  • Machado-Joseph Disease / genetics*
  • Male
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phenotype*
  • Repressor Proteins / genetics*
  • Spastic Paraplegia, Hereditary / diagnosis
  • Spastic Paraplegia, Hereditary / genetics*


  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Repressor Proteins
  • ATXN3 protein, human
  • Ataxin-3