Number and characteristics of people who requested the Portuguese Version of the European Physiotherapy Guideline for Parkinson’s Disease: a one-year follow-up
Objective: To identify how many people requested the Portuguese Version of the European Physiotherapy Guideline for Parkinson’s Disease (PD) and their profile. Background: In 2016,…Hemidystonia Associated with Alexander Disease
Objective: To describe an uncommon movement disorder phenotype of Alexander disease (AD). Background: AD is a rare autosomal dominant disorder that causes progressive leukodystrophy, especially…Genetic and Clinical Analysis of Cerebral Calcifications
Objective: Genetic and clinical analysis in primary cerebral calcification. Background: Cerebral calcification is associated with a variety of disorders of different aetiologies. To date, the primary…Reviewing the Clinical and Mutational Spectrum of SLC20A2 Mutations in Primary Familial Brain Calcification (PFBC) for MDSGene
Objective: Following the MDSGene protocol, we here present the clinical and mutational spectrum of SLC20A2 mutations, thereby adding the first gene found to be mutated…Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism
Objective: We aimed to elucidatewhether single nucleotide polymorphisms within the XDP locus affect the phenotypic expression of XDP. Background: X-linked Dystonia-Parkinsonism (XDP, DYT3, Lubag Disease,…Characterization of GNB1 mutations as a cause of global developmental delay in combination with dystonia, ataxia, or chorea in children
Objective: To investigate the phenotypic and genotypic spectrum of GNB1 (guanine nucleotide-binding protein, beta 1) mutations and to functionally evaluate their pathogenicity. Background: Global developmental…C19orf12 p.Thr11Met mutation is frequent among adult Turkish patients with MPAN
Objective: To genetically and clinically characterize a series of Turkish patients affected by neurodegeneration with brain iron accumulation (NBIA) compatible with an autosomal recessive form…Fragile X Gray Zone Alleles are associated with Higher Global Motor Function in an Elderly Community Population
Objective: To determine the association between FMR1 gray zone expansion and the presence of parkinsonism, motor, and cognitive function in community based individuals. Background: Larger expansions,…Glucocerebrosidase mutations in idiopathic REM sleep disorder
Objective: Several studies have shown that glucocerebrosidase gene (GBA) mutations are strongly associated with the development of Lewy body diseases (LBD) and that idopathic REM…Whole exome sequencing in essential tremor.
Objective: Objective: To discover novel gene variants associated with essential tremor (ET) using whole exome sequencing (WES). Background: Background: ET, one of the most common…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.