Two cases of parkinsonism with atypical genetics
Objective: To report and discuss two unrelated patients carrying heterozygous mutations in both Parkin (PARK2) and Glucocerebrosidase (GBA) gene, with atypical Parkinsonian features. Background: Parkin…Genetic variation near the SNCA gene associates with Parkinson’s disease motor phenotype and progression
Objective: To examine the extent to which single nucleotide polymorphisms (SNPs) are associated with motor phenotype and progression in Parkinson's disease (PD). Background: Tremor-dominant (TD)…Deletions at 22q11.2 in idiopathic Parkinson’s disease: A combined analysis of GWAS data
Objective: To verify the reported association of Parkinson's disease(PD) with Chromosome 22q11.2 Deletion Syndrome(22q11.2DS) in series of large, independent idiopathic PD case-control studies. Background: PD…Risk prediction modeling in Parkinson’s disease using genetic and environmental/lifestyle factors
Objective: To assess the potential of Parkinson's disease (PD) risk prediction using a comprehensive list of genetic and environmental/lifestyle factors associated with PD. Background: Parkinson's…Premotor phase of PD in two GBA mutation carriers
Objective: To identify premotor phase of Parkinson's disease (PD) in obligate GBA heterozygous carriers. Background: GBA mutation carriers are in greater risk of developing PD.…A novel haplotype in LRRK2 is associated with risk for multiple system atrophy in the Korean population
Objective: To (1) validate past results by investigating the role of LRRK2 exonic variants in an equivalent Korean series with MSA and (2) identify novel…Clinical and imaging deterioration of a mild case of Wilson’s disease after chelation therapy
Objective: To present a case of a mild wilson disease with neuropsychiatric features which showed clinical and also imaging deteriotation five months after the chelation…Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency
Objective: To describe a family with two siblings affected by different dystonic disorders as a resulting phenotype of ECHS1 mutations. Background: ECHS1 encodes a mitochondrial…Human, fly and cellular models of riboflavin transporter neuronopathy
Objective: A) To find the spectrum of defects in riboflavin transporter genes; B) To ascertain the in-vitro cellular effects of SLC52A2 mutations and riboflavin on…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.