OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review
Objective: To describe a novel case of OPTN multiexon deletion causing a peculiar CBS-ALS phenotype. Background: While traditionally classified as distinct clinical entities, corticobasal syndrome…Unraveling the Role of Short Tandem Repeats in Parkinson’s disease, Essential tremor, and Amyotrophic lateral sclerosis: A Large Chinese Cohort Study
Objective: This study investigates the prevalence and impact of short tandem repeat (STR) mutations in the next-generation sequencing data of patients with Parkinson’s disease (PD), essential…Tremors and More: A Case Report of TBK1 Mutation and Electrophysiological Assessment
Objective: TBK1 mutations have been associated with a range of neurological disorders, but their association with tremor is not well-documented. Here, we present a case…Detailed illustration of a Turkish patient with homozygous C19ORF12 mutation
Objective: To illustrate a rare Turkish patient with homozygous C19ORF12 mutation and discuss limitations regarding the current terminology and classification. Background: Neurodegeneration with brain iron…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.