Extrapyramidal involvement in amyotrophic lateral sclerosis: results of a prospective population-based study
Objective: To assess frequency, clinical characteristics and functional neuroimaging correlates of parkinsonian signs in a population-based series of new-diagnosed amyotrophic lateral sclerosis (ALS) patients. Background:…Glucocerebrosidase mutations in neurodegenerative disorders other than Parkinson’s disease
Objective: To determinate the frequencies of lysosomal glucocerebrosidase (GBA) common mutations in a large sample of neurodegenerative diseases including Alzheimer Disease (AD), Lewy Body Dementia (LBD), Amyotrophic…Association analyses of three susceptibility loci for Alzheimer’s disease in Parkinson’s disease, amyotrophic lateral sclerosis, and multiple system atrophy
Objective: Considering the overlapping of clinical manifestation and pathologic characteristics of Alzheimer’s disease (AD) and Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple system…Association analysis of SNP rs11868035 in SREBF1 with Parkinson’s disease, amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population
Objective: To examine the possible genetic association of rs11868035 with Parkinson's disease (PD), amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) in a Chinese…Clinical phenotype (motor and neuropsychological presentation) and neuroimaging in Sardinian patients affected by atypical parkinsonisms, carriers of 20-22 repeats of C9ORF72 hexanucleotide expansion
Objective: Based on our previous finding of the p.A382T of TARDBP in patients with concomitant parkinsonism in the Sardinian population, we hypothesized that also the…Direct assessment of psychosocial measures using eye tracking technology in advanced ALS – Can preserved autonomy and psychological wellbeing modify disease course?
Objective: To assess psychosocial functioning in advanced ALS in a fully independent manner. Background: ALS is a fatal motor neuron disease, with progressive paralysis, dysarthria,…A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Objective: To present the clinical features and genetic findings of a Turkish family a new DJ1 mutation and presenting with early-onset levodopa responsive parkinsonism and…ESCRT-0 dysfunction compromises autophagic degradation of protein aggregates and facilitates ER stress-mediated neurodegeneration via apoptotic and necroptotic pathways
Objective: Endosomal sorting required for transport (ESCRT) orchestrates endo-lysosomal soring of ubiquitinated proteins, multivesicular body formation. The aim of this study is to elucidate the…Sleep motor activity in amyotrophic lateral sclerosis
Objective: To analyze quantitatively and with the most recent and advanced tools the presence of periodic leg movements during sleep (PLMS) PLMS and/or REM sleep…Association of amyotrophic lateral sclerosis with basal ganglia impairment
Objective: The aim of this study is to define extent of basal ganglia involvement in amyotrophic lateral sclerosis (ALS). Methods: The study included 45 patients…