SCA1 patients may present as hereditary spastic paraplegia and must be included in spastic-ataxias group.
Parkinsonism Relat Disord
; 21(10): 1243-6, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26231471
ABSTRACT
INTRODUCTION:
The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1.METHODS:
We prospectively evaluated the pyramidal signs and spasticity in SCA1 patients, and correlated the data with genetic and clinical features.RESULTS:
In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1 patients with spasticity were significantly younger.CONCLUSION:
SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paraplegia Espástica Hereditária
/
Atrofia Óptica
/
Ataxias Espinocerebelares
/
Deficiência Intelectual
/
Espasticidade Muscular
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Parkinsonism Relat Disord
Ano de publicação:
2015
Tipo de documento:
Article