Spanish Primary Familial Brain Calcification caused by SLC20A2 mutation
Objective: To describe clinical and radiological features of a Spanish family with Primary Familial Brain Calcification (PFBC) and genetic results of the index case. Background:…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…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…No RAB39B gene mutations in Chinese familial Parkinson’s disease
Objective: To validate the susceptibility to familial PD patients caused by RAB39B in Chinese Han population. Background: Recently, RAB39B mutations c.503C>A and c.574G>A have been…Investigation into the genetic etiology in South African Parkinson’s disease patients
Objective: To investigate the genetic etiology in a group of South Africa Parkinson's disease (PD) patients. Background: The genetic etiology of PD is complex and…Hereditary atypical parkinsonism with novel mutation of the VPS35 and FBXO7 genes
Objective: To determine the genetic background of hereditary atypical parkinsonism in an isolated region of the Czech Republic. Background: A higher prevalence of parkinsonism was…The Faroese Parkinson’s diseases research program-Multifactorial analyses of a complex syndrome
Objective: The program aim is to assess the contribution of genes and environment influencing susceptibility, progression and the relative contribution of risk factors underlying Parkinson's…Familial Parkinson’s disease in the Province of Quebec
Objective: We describe clinical, genealogic and genetic studies in several families with multi-incident Parkinson's disease (PD). Background: PD is a multifactorial trait for which components…Characterisation of the A30P mutation in alpha-synuclein gene in patient-derived cellular model of Parkinson’s disease
Objective: In this study, we aim to generate and characterise patient-derived midbrain dopaminergic neurons (mDANs) of the A30P Parkinson's disease (PD) familial case. Our goal…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.