Role of 7-Tesla MRI in assessing clinical symptoms in CSF1R-Related Disorders
Objective: To evaluate utility of 7-tesla magnetic resonance imaging (7T MRI) as a biomarker of CSR1R-Related Disorder (CSF1R-RD). Background: CSF1R-RD is a rapidly progressive neurodegenerative…Exploring the Association of APOE Polymorphism and the Clinical Course of CSF1R-Related Disorder
Objective: To assess the frequency of APOE alleles and their association with clinical course of Colony Stimulating Factor 1 Receptor-Related Disorder (CSF1R-RD). Background: CSF1R-RD is…Clinical and Pathological Features of CSF1R-Related Disorder Associated with the c.2330G>A, p.R777Q Pathogenic Variant
Objective: To report the clinical and pathological features of CSF1R-RD associated with the c.2330G>A, p.R777Q variant, and to report a new family carrying this variant.…Atypical Frontotemporal Dementia with Parkinsonism Linked to SQSTM1 Mutation A Clinicopathological Case Study
Objective: To describe the clinical, neuroimaging, and neuropathological features of a patient with frontotemporal dementia (FTD) and parkinsonism related to mutation in the SQSTM1 gene.…Tracking Progression and Survival in a Large Cohort of Patients with Progressive Supranuclear Palsy
Objective: To characterise a longitudinal cohort of patients with Progressive Supranuclear Palsy (PSP) and identify factors influencing progression. Background: Median survival in PSP is approximately…A Case for Novel Phenotypes Associated with Digenic CHMP2B-LRRK2 Mutations
Objective: We report a patient presenting with both bv-FTD & PD phenotypes, alongside a complex family history featuring multiple neurodegenerative disorders. Background: The CHMP2B &…7year followup of Asia’s first case of sporadic ATP6AP2 Mutation: α-synucleinopathy or tauopathy?
Objective: ATP6AP2 mutation, previously described in literature to cause early onset Parkinson’s disease (PD) with atypical signs, evolved into frontotemporal lobar degeneration in a 7year…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…Atypical parkinsonism and psychiatric disorder in hereditary diffuse leukoencephalopathy with spheroids: a novel variant in the CSF1R gene
Objective: We describe the clinical, radiological and neuropathological phenotype of a patient carrying a novel variant in the CSF1R gene. Background: Hereditary diffuse leukoencephalopathy with…Early-onset cortico-basal degeneration (CBD) due to a c.2092G>A MAPT mutation
Objective: To describe a patient with early-onset atypical parkinsonism that evolved to a classic CBD without dementia, associated to a c.2092G>A MAPT mutation Background: Although…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.