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…CSF level of chromogranin A in amyotrophic lateral sclerosis
Objective: Today the diagnosis of amyotrophic lateral sclerosis (ALS) is based on clinical assessment of upper and lower motor neuron signs in the limb and/or…ECG-based cardiopulmonary coupling for sleep stability assessment in patients with amyotrophic lateral sclerosis
Objective: The goal of this preliminary study is to introduce the technique of CardioPulmonary Coupling (CPC) to visualize and quantify the sleep spectrograms of Amyotrophic…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.