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Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.
McCombe, P A; Wray, N R; Henderson, R D.
Afiliación
  • McCombe PA; a The University of Queensland Centre for Clinical Research and Department of Neurology, Royal Brisbane and Women's Hospital , Brisbane , Australia.
  • Wray NR; b The University of Queensland Institute for Molecular Bioscience , Brisbane , Australia.
  • Henderson RD; a The University of Queensland Centre for Clinical Research and Department of Neurology, Royal Brisbane and Women's Hospital , Brisbane , Australia.
Expert Rev Neurother ; 17(6): 561-577, 2017 06.
Article en En | MEDLINE | ID: mdl-27983884
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease defined by the presence of muscle weakness. The motor features of disease are heterogeneous in site of onset and progression. There are also extra-motor features in some patients. The genetic basis for extra-motor features is uncertain. The heterogeneity of ALS is an issue for clinical trials. Areas covered: This paper reviews the range and prevalence of extra-motor features associated with ALS, and highlights the current information about genetic associations with extra-motor features. Expert commentary: There are extra-motor features of ALS, but these are not found in all patients. The most common is cognitive abnormality. More data is required to ascertain whether extra-motor features arise with progression of disease. Extra-motor features are reported in patients with a range of causative genetic mutations, but are not found in all patients with these mutations. Further studies are required of the heterogeneity of ALS, and genotype/phenotype correlations are required, taking note of extra-motor features.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Expert Rev Neurother Asunto de la revista: NEUROLOGIA / TERAPEUTICA Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esclerosis Amiotrófica Lateral / Mutación Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Expert Rev Neurother Asunto de la revista: NEUROLOGIA / TERAPEUTICA Año: 2017 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido