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…A Swedish family with Paroxysmal Kinesigenic Dyskinesia due to p.Arg217Profs*8 truncation in the proline-rich transmembrane protein 2 gene
Objective: To describe the first Swedish pedigree that fits both clinical criteria for PKD and genetic confirmation for the p.Arg217Profs*8 in the PRRT2 gene. Background: Paroxysmal Kinesigenic…Whole Exome Sequencing (WES) identifies a TUBB4A Mutation in two Saudi siblings with hypomyelinating leukodystrophy associated with atrophy of basal ganglia and cerebellum.
Objective: To highlight the presentation of TUBB4A mutations. Background: Hypomyelinating leukodystrophy, identified in 2002 by magnetic resonance imaging is a rare heterogeneous group of diseases…Spastic paraplegia type 4: a novel SPAST splice site donor mutation and expansion of the phenotype variability
Objective: The aim of this study is to reveal molecular pathogenicity and genotype-phenotype correlations in spastic paraplegia type 4 (SPG4). Background: Mutations in SPG4/SPAST represent…Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7
Objective: To describe a case of spasmodic dysphonia associated with hereditary spastic paraplegia (HSP) type 7. Background: HSP is a heterogeneous group of inherited disorders…Rice bran extract against animal model of Huntington’s disease: Possible role of neurotransmitters
Objective: The present study has been designed to explore the effect of rice bran extract against 3-NP induced neurotoxicity in rats. Background: Huntington’s disease (HD)…Huntington’s disease in the Republic of Tatarstan, epidemiological features
Objective: To evaluate the epidemiological features of Huntington's disease (HD) according to the Centre for Movement Disorders and Botulinum Therapy of Republic of Tatarstan (Centre…)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.