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…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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.