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Medicina (Buenos Aires)

Print version ISSN 0025-7680


RODRIGUEZ-QUIROGA, Sergio A. et al. The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia. Medicina (B. Aires) [online]. 2013, vol.73, n.6, pp.552-554. ISSN 0025-7680.

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 : Ataxia; Machado Joseph disease; SCA-3; Genetics; Hereditary spastic paraplegia.

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