[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia]. / Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria.
Medicina (B Aires)
; 73(6): 552-4, 2013.
Article
em Es
| MEDLINE
| ID: mdl-24356267
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.
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Assunto principal:
Fenótipo
/
Proteínas Repressoras
/
Proteínas Nucleares
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Paraplegia Espástica Hereditária
/
Doença de Machado-Joseph
/
Proteínas do Tecido Nervoso
Idioma:
Es
Ano de publicação:
2013
Tipo de documento:
Article