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…p.Gln257Profs*27 mutation in progranulin gene in a patient with corticobasal syndrome – the importance of family history
Objective: To report a case of a family with a mutation in progranulin gene manifesting as corticobasal syndrome, frontotemporal dementia and parkinson's disease. Background: Corticobasal syndrome (CBS) is mostly…Asymmetric midbrain atrophy in a patient with progranulin-related FTLD
Objective: We describe an atypical imaging finding in a patient with corticobasal syndrome (CBS) and a genetic diagnosis of frontotemporal lobar dementia (FTLD) associated with…New presenilin-1 missense variant (p.Pro88Arg) characterized by initial progressive supranuclear palsy like phenotype.
Objective: To report a new presenilin-1 (PSEN 1) missense variant (p.Pro88Arg) characterized by initial Progressive Supranuclear Palsy (PSP) like phenotype. Background: Pathogenic variants in the PSEN1gene…An adult type Niemann-Pick disease type C family: Huntington’s disease-like expression
Objective: We present a family with Niemann-Pick disease type C (NPC) expressing Huntington's disease-like involuntary movements. The process for the diagnosis may be a good…A novel intronic variant in MAPT causes FTLD-parkinsonism: Implications for regulatory mechanism of MAPT pre-mRNA splicing
Objective: To report the identification of a novel intronic variant in MAPT in a patient with familial parkinsonism-frontotemporal lobar degeneration (FTLD). Background: MAPT mutations are…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.