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Case Reports
. 2013;73(6):552-4.

[The Broad Phenotypic Spectrum of SCA-3: Hereditary Spastic Paraplegia]

[Article in Spanish]
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  • PMID: 24356267
Free article
Case Reports

[The Broad Phenotypic Spectrum of SCA-3: Hereditary Spastic Paraplegia]

[Article in Spanish]
Sergio A Rodríguez-Quiroga et al. Medicina (B Aires). .
Free article

Abstract

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.

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