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…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…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…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…