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…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.…Atypical parkinsonism in C9orf72 expansions: A case report and systematic review of 45 cases from the literature
Objective: To provide a systematic clinical characterisation of C9orf72-associated parkinsonism. Background: While C9orf72 repeat expansions usually present with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis…Muscle ceroid-lipofuscine-like deposits in a patient with FTD due to a progranulin mutation
Objective: We report a case of a Cortical Basal Syndrome (CBS) due to heterozygous Granulin (GRN) mutation who develops a lysosomal storage pathology characterized by…Clinical phenotype (motor and neuropsychological presentation) and neuroimaging in Sardinian patients affected by atypical parkinsonisms, carriers of 20-22 repeats of C9ORF72 hexanucleotide expansion
Objective: Based on our previous finding of the p.A382T of TARDBP in patients with concomitant parkinsonism in the Sardinian population, we hypothesized that also the…Primary progressive aphasia and frontotemporal dementia in an Irish-American family due to a novel progranulin mutation
Objective: To report the first Irish family with FTLD and a novel granulin (GRN) mutation. Background: Frontotemporal lobar degeneration (FTLD) is the second most common…Analysis of MAPT, GRN and C9orf72 genes in progressive supranuclear palsy, corticobasal syndrome and frontotemporal lobar degeneration in Russian population
Objective: To investigate MAPT variants and haplotypes, GRN mutations, and C9orf72 expansion in a cohort of Russian patients with progressive supranuclear palsy (PSP), cotricobasal syndrome…A heterozygous splicing mutation c.823-10G>T at the intron9/exon 10 of the MAPT gene in an Irish family with FTDP- 17
Objective: *Authors EMF and DAO contributed equally. To describe the phenotype of the second reported pedigree with the heterozygous splicing mutation c.823-10G>T at the intron…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.