C9ORF72 intermediate repeat copies as a rare genetic cause of atypical Parkinsonian syndromes or Parkinson’s disease complicated by psychosis in a Sardinian population
Objective: To screen for the presence of C9ORF72 repeat expansions in patients affected by atypical parkinsonism syndromes and PD complicated by psychosis or dementia, and…Next-generation profiling to identify the molecular etiology of Parkinson’s disease dementia
Objective: To identify novel gene regulatory events associated with Parkinson's disease with dementia (PD-D). Background: PD-D is associated with the spread of degenerative pathology to…Do environmental factors influence the age at onset of Parkinson’s disease in LRRK2 G2019S carriers?
Objective: To evaluate the influence of environmental factors on the age at onset of Parkinson's disease in LRRK2 G2019S carriers. Background: Environmental and lifestyle factors…Genome-wide bioinformatic analysis of Parkinson’s disease: A focus on neuronal health maintenance
Objective: To scan the human genome for genes involved in neuronal health maintenance in Parkinson's disease (PD). Background: An enormous number of genes and pathways…Oligomeric alpha-synuclein and glucocerebrosidase activity levels in GBA-associated Parkinson’s disease
Objective: To evaluate alterations in the phosphorylated, oligomeric alpha-synuclein and GBA activity levels in plasma from patients with sporadic Parkinson's disease (sPD), PD patients with…Vitamin D receptor polymorphisms and Parkinson’s disease in a Korean population: Revisited
Objective: We evaluated an association between PD and VDR polymorphisms including BsmI, FokI, ApaI, and TaqI and we also investigated the relationship between VDR polymorphisms…Transient parkinsonism during pregnancy in patient heterozygous for Gaucher’s disease: Case report
Objective: To present a case of a woman who became transient Parkinsonian during pregnancy and found to have a rare genetic mutation and describe response…Investigating voice as a biomarker of LRRK2-associated Parkinson’s disease (PD)
Objective: To test for an association between LRRK2 mutation and pathological changes in voice. Background: Voice impairment, characterized by reduced volume, breathiness, roughness and exaggerated…Systematic review of autosomal recessive parkinsonism using the MDGene database protocol
Objective: A systematic review of autosomal recessive parkinsonism using DJ-1 as an example. Background: MDGene is a genotype-phenotype database for rare mutations in movement disorders…A web resource on levodopa-induced dyskinesia (LID) genetics
Objective: Establish a web resource summarizing literature-based genetic information on levodopa-induced dyskinesia in an easily accessible and consistent way. Background: Levodopa induced dyskinesia (LID) is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.