title: Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.
abstract: 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.
authors.affiliation: a The University of Queensland Centre for Clinical Research and Department of Neurology, Royal Brisbane and Women's Hospital , Brisbane , Australia.
authors.forename: P A
authors.initials: PA
authors.lastname: McCombe
authors.affiliation: b The University of Queensland Institute for Molecular Bioscience , Brisbane , Australia.
authors.forename: N R
authors.initials: NR
authors.lastname: Wray
authors.affiliation: a The University of Queensland Centre for Clinical Research and Department of Neurology, Royal Brisbane and Women's Hospital , Brisbane , Australia.
authors.forename: R D
authors.initials: RD
authors.lastname: Henderson
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000503:physiopathology; D018450:Disease Progression; D006801:Humans; D009154:Mutation
keywords: Amyotrophic lateral sclerosis; autonomic disturbance; cognitive impairmemt; motor neuron disease; sensory disturbance