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…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.