title: [The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].
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.
authors.affiliation: Consultorio de Neurogenética, División Neurología, Hospital José María Ramos Mejía.
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Rodríguez-Quiroga
authors.forename: Dolores
authors.initials: D
authors.lastname: González-Morón
authors.forename: Tomoko
authors.initials: T
authors.lastname: Arakaki
authors.forename: Nélida
authors.initials: N
authors.lastname: Garreto
authors.forename: Marcelo A
authors.initials: MA
authors.lastname: Kauffman
mesh_terms: D000328:Adult; D000067699:Ataxin-3; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*
chemical_list: D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3
keywords: Machado Joseph disease; SCA-3; ataxia; genetics; hereditary spastic paraplegia