Rare Neurodegenerative Phenotypes in Patients Carrying Homozygous GBA1 Mutations
Objective: To describe patients with Type 1 Gaucher disease who developed a rare neurodegenerative disease other than synucleinopathies. Background: Lysosomal dysfunction as a contributor to…Oral treatment of the SOD1G93A transgenic mouse model of amyotrophic lateral sclerosis (ALS) with the neuro-inflammation inhibiting compound PRI-003
Objective: Demonstration of beneficial effects of neuro-inflammation inhibition for the treatment of amyotrophic lateral sclerosis (ALS). Background: Neuro-inflammation and immune-inflammatory processes are characteristics of the…Kinematic assessment of bradykinesia in patients with amyotrophic lateral sclerosis
Objective: To kinematically assess abnormalities of voluntary upper limbs movements in patients with amyotrophic lateral sclerosis compared to healthy subjects. To investigate possible relationships between…Ataxin-2 gene in the Cuban population: Mutagenesis and epigenetic DNA methylation disease influencing phenotype
Objective: To characterize genetics and epigenetics factors contributing to the origin and accounting to the Cuban SCA2 phenotype variability. Background: CAG repeat expansions in ATXN2…The potential modifier effect of C9orf72 DNA methylation in C9ORF72 carriers
Objective: To develop molecular assays for determining the influence of hypermethylation on age of onset for C9ORF72 carriers. Background: Hexanucleotide repeats of GGGGCC in C9ORF72 is…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…“Wine glass” appearance in a primary lateral sclerosis and frontotemporal dementia case
Objective: Primary lateral sclerosis is a very uncommon progressive disease and represents 2-4% of motor neuron diseases group. It is characterized by spasticity because corticospinal…On the hunt for a link between genetically confirmed Huntington’s disease and Amyotrophic Lateral Sclerosis
Objective: To characterise the clinical and pathologic findings of Huntington’s disease (HD) and coincident amyotrophic lateral sclerosis (ALS). Background: A 66 year old man presented…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.