3 documents found, page 1 of 1
Occasional essay: Upper motor neuron syndrome in amyotrophic lateral sclerosis
Swash, Michael; Burke, David; Turner, Martin R.; Grosskreutz, Julian; Leigh, P. Nigel; Carvalho, Mamede; Kiernan, Matthew C.The diagnosis of amyotrophic lateral sclerosis (ALS) requires recognition of both lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction. However, classical UMN signs are frequently difficult to identify in ALS. LMN involvement is sensitively detected by electromyography (EMG), but, as yet, there are no generally accepted markers for monitoring UMN abnormalities, the neurobiology of ALS itself and di...
A proposal for new diagnostic criteria for ALS
Shefner, Jeremy M.; Al-Chalabi, Ammar; Baker, Mark R.; Cui, Li-Ying; Carvalho, Mamede; Eisen, Andrew; Grosskreutz, Julian; Hardiman, OrlaSclerosis (ALS) were initially published in 1994 and revised in 2000. Criteria were established because the ‘‘variety of clinical features which may be present early in the course of ALS makes absolute diagnosis difficult and compromises the certainty of diagnosis for clinical research purposes and therapeutic trials.” The original criteria described 4 categories of disease: Definite, Probable, Possible, and Su...
Genome-wide analyses identify KIF5A as a novel ALS gene
Nicolas, Aude; Kenna, Kevin P.; Renton, Alan E.; Ticozzi, Nicola; Faghri, Faraz; Chia, Ruth; Dominov, Janice A.; Kenna, Brendan J.; Nalls, Mike A.To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Int...