Parkinsonism and other motor features in familial frontotemporal dementia with mutations in the MAPT, GRN, or C9orf72 gene (LEFFTDS cohort)
Objective: We compared motor features in patients with familial frontotemporal dementia (f-FTD) and MAPT, GRN or C9orf72 gene mutations. Special emphasis was placed on the evaluation…Spastic Paraplegia Type 64: a Case Series
Objective: to present four cases (two families) with a likely diagnosis of spastic paraplegia type 64 (SPG 64), broadening this disease phenotype. Background: SPG64 is…Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an adult patient presenting with movement disorders and Mitochondrial DNA Depletion
Objective: To determine cause of disease in an adult patient with an undiagnosed chronic neurodegenerative disease. Background: POLG2 is a nuclear gene responsible for mtDNA…LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Assessment of RADIAL, a tool for the diagnostic of autosomal recessive cerebellar ataxia: a prospective study
Objective: Our objective was to validate “RADIAL” ( Recessive Ataxias ranking differential DIagnosis Algorithm) for the diagnosis of Autosomal Recessive Cerebellar Ataxia (ARCA). Background: ARCA…BeaT-PD, An Industry-Academic Collaboration to Understand PD Progression in Ashkenazi Jews
Objective: Establish an Industry-Academic collaboration to identify factors contributing to disease progression in PD. Background: Ashkenazi Jews (AJ) are an excellent ethnic group in which…GBA p.Glu326Lys substitution increases the risk to develop Parkinson’s disease; is it enough to affect disease phenotype?
Objective: To evaluate the frequency of GBA p.Glu326Lys (E326K) carriers in a large cohort of Parkinson's disease patients of Ashkenazi Jewish origin (AJPD) and to…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…Is the gene expression of TAF1 modified by the X-linked dystonia-parkinsonism-associated hexanucleotide repeat?
Objective: To investigate the impact of the hexanucleotide repeat within the X-linked dystonia-parkinsonism-associated haplotype on endogenous TAF1expression. Background: X-linked dystonia-parkinsonism (XDP) is a severe neurodegenerative movement…Association analysis between SCNN1A rs10849446, SPTLC3 rs6041636 and rs627354 and Parkinson’s disease and multiple system atrophy in a large Chinese population
Objective: Considering the overlap in clinical manifestations, genetic findings and pathological hallmark between PD and MSA, we aimed to study the association between these 3…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.