Predicting ALS progression using remote sensor-based assessments
Objective: To develop a predictive model of amyotrophic lateral sclerosis (ALS) progression using self-administered digital assessments. Background: Remote fit-for-purpose sensor-based assessments stand to enhance the…What if it is not a Functional Movement Disorder?
Objective: To describe a consecutive cohort of patients with non-functional neurological diseases that were initially diagnosed as Functional Movement Disorders (FMD). Background: Functional and non-Functional…Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia
Objective: To present a rare case of Amyotrophic Lateral Sclerosis (ALS) with cerebellar ataxia onset. Background: ALS is a fatal neurodegenerative disorder known to affect…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…“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.