Amyotrophic Lateral Sclerosis-Progressive Supranuclear Palsy Phenotype with Negative C9ORF72 Mutation
Objective: We report a rare case of amyotrophic lateral sclerosis (ALS) / progressive supranuclear palsy (PSP) phenotype. Background: Increasing evidence supports a common pathophysiology between…Determining the effect of the HNMT, STK39 and NMD3 polymorphisms on the incidence of Parkinson’s disease, amyotrophic lateral sclerosis and multiple system atrophy in Chinese populations
Objective: To investigate associations between 3 variants (HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896) and PD, multiple system atrophy (MSA) as well as amyotrophic lateral…The comparative clinical analysis of sleep patterns in patients with Amyotrophic Lateral Sclerosis and Parkinson’s disease
Objective: We seek to investigate the nighttime sleep pattern of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and primary Parkinson's disease (PD). Background: Sleep disorders…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.