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Article

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

Medicina - 1 Jan 2013

Rodríguez-Quiroga Sergio A, González-Morón Dolores, Arakaki Tomoko, Garreto Nélida, Kauffman Marcelo A

Abstract excerpt

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...

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PMID: 24356267

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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