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…Movement disorders spectrum in patients with frontotemporal dementia
Objective: To determine frequency of different hypokinetic and hyperkinetic movement disorders (MD) within a spectrum of frontotemporal dementia (FTD): we examined patients with behavioral and…Parkinson-related CHCHD2 is necessary for oligomerization of ALS/FTD-related CHCHD10
Objective: Characterization of isogenic CHCHD2, CHCHD10, and CHCHD2/10 double knockout out cell lines with assays of mitochondrial function, mitochondrial sublocalization, and homo- and heterodimerization. Background:…Pre-synaptic dopaminergic deficit in a patient with familial FTD
Objective: Clinical description of a patient with familial FTD with a rapidly progressive parkinsonism. Background: FTD typically presents with behavioral and cognitive deficits, but extrapyramidal…Atypical and slowly progressive FTDP-17 caused by MAPT p.R406W mutations – similarities to AD and PSP.
Objective: We compiled clinical data of a new kindred with the MAPT c.1216C>T (p.Arg406Trp; R406W) mutation and systematically reviewed previously described cases with this mutation.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.