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…Variations in ANO3 gene in patients with cervical dystonia
Objective: The aim of our study was to establish prevalence of variants in the gene for anoctamin 3 (ANO3) in a population of patients with…The predominant parkinsonian phenotype in beta propeller associated neurodegeneration (BPAN)
Objective: Describe three BPAN patients with two different phenotypes and explore the phenomenology of patients reported in the literature. Background: De novo mutations in WD repeat…Clinical and genetic analysis of ataxic patients with CACNA1A mutations in Taiwan
Objective: To study the clinical presentation of ataxic patients with CACNA1A mutations in a Taiwanese cohort. Background: Mutations of CACNA1A gene is the genetic cause…Ataxia and increased cerebrospinal fluid phosphate associated with a mutation in the SLC20A2 gene
Objective: To characterize the phenotype and biochemical abnormalities associated with the R467X mutation in the SLCA20A2 gene. Background: Mutations in the SLC20A2 gene are the…Сase of myotonic dystrophy
Objective: Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. Background: Classical DM (DM1) has been identified as an…Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.