8 documents found, page 1 of 1
Association of the practice of contact sports with the development of amyotroph...
Henriques, Ana; Gromicho, Marta; Grosskreutz, Julian; Kuzma-Kozakiewicz, Magdalena; Petri, Susanne; Uysal, Hilmi; Pinto, Susana; Antunes, MariliaObjectives: High-intensity physical activity and sports prone to repetitive injuries of the cervical spine and head (when associated with vigorous practice) have been suggested as possible risk factors for amyotrophic lateral sclerosis (ALS). Our objective was to evaluate the relationship between the practice of contact sports (boxing, hockey, football, rugby) and ALS. Methods: The study included 2247 individua...
Motor neuron disease beginning with frontotemporal dementia: clinical features ...
Gromicho, Marta; Kuzma-Kozakiewicz, Magdalena; Szacka, Katarzyna; Nieporecki, Krzysztof; Andersen, Peter M.; Grosskreutz, Julian; Petri, SusanneObjective: To study disease characteristics, progression and outcome in a group of motor neuron disease (MND) patients beginning with frontotemporal dementia (FTD) by comparing them with patients with the typical motor-onset. Methods: 849 patients recruited from tertiary centers were studied according to FTD-onset and motor-onset. We studied clinical data, functional decline and survival. Results: Twenty six pa...
Peripheral neuropathy in ALS: phenotype association
Carvalho, Mamede; Gromicho, Marta; Andersen, Peter; Grosskreutz, Julian; Kuzma-Kozakiewicz, Magdalena; Petri, Susanne; Uysal, Hilmi; Pinto, SusanaAmyotrophic lateral sclerosis (ALS) is a rare and progressive neurodegenerative disease mainly affecting upper and lower motor neurons but also causing multisystem involvement, in particular, associated with cognitive changes. Minor sensory fibre dysfunction has been described in the past and confirmed in recent studies. In a multicentre study investigating a population of 88 patients with ALS, the ESTEEM group...
Cardiovascular comorbidities in amyotrophic lateral sclerosis
Pereira, Mariana; Gromicho, Marta; Henriques, Ana; Pronto Laborinho, Ana Catarina; Grosskreutz, Julian; Kuźma-Kozakiewicz, Magdalena; Petri, SusanneBackground: The role of cardiovascular risk factors in amyotrophic lateral sclerosis (ALS) is controversial. A favourable profile has been found in ALS patients, but previous studies have not specifically considered the profile in different disease phenotypes. Methods: Demographic data, smoking habits, lifetime exercise, and medical history including diabetes mellitus, arterial hypertension, hypercholesterolemi...
Emotional lability at disease onset is an independent prognostic factor of fast...
Kuźma-Kozakiewicz, Magdalena; Uysal, Hilmi; Steinbach, Robert; Rödiger, Annekathrin; Petri, Susanne; Grosskreutz, Julian; Gromicho, MartaAmyotrophic lateral sclerosis (ALS) is a fast progressing neurodegenerative disease leading to quadriplegia, anarthria and respiratory insufficiency. A large variety of phenotypes and disability progression requires individually tailored management. Identification of predictors of poor prognosis may not only improve management, but also allow for more precise patients' stratification for clinical trials or rese...
Spreading in ALS: The relative impact of upper and lower motor neuron involvement
Gromicho, Marta; Figueiral, Manuel; Uysal, Hilmi; Grosskreutz, Julian; Kuzma‐Kozakiewicz, Magdalena; Pinto, Susana; Petri, Susanne; Madeira, Sara C.Objective: To investigate disease spread in amyotrophic lateral sclerosis (ALS), and determine the influence of lower (LMN) and upper motor neuron (UMN) involvement. Methods: We assessed disease spread in ALS in 1376 consecutively studied patients, from five European centers, applying an agreed proforma to assess LMN and UMN signs. We defined the pattern of disease onset and progression from predominant UMN or ...
July 2017 ENCALS statement on edaravone
Al-Chalabi, Ammar; Andersen, Peter M.; Chandran, Siddharthan; Chio, Adriano; Corcia, Philippe; Couratier, Philippe; Danielsson, Olof; Carvalho, MamedeNeurologists of the ENCALS centers throughout Europe have discussed the potential of edaravone as a new therapy for amyotrophic lateral sclerosis (ALS, Motor Neuron Disease, MND) at the ENCALS meeting, 18–20 May 2017, in Ljubljana, Slovenia. In May 2017, the US Food and Drug Administration (FDA) granted a license for the drug known as edaravone (licensed in Japan in 2015 as Radicut) for the treatment of ALS in ...
Genome-wide association analyses identify new risk variants and the genetic arc...
van Rheenen, Wouter; Shatunov, Aleksey; Dekker, Annelot M.; McLaughlin, Russell L.; Diekstra, Frank P.; Pulit, Sara L.; van der Spek, Rick A. A.To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fin...