Inherited neuromyotonia associated with a dominant-negative KCNQ2 mutation
Objective: To report the phenotypic and genotypic characteristics of a Taiwanese family with inherited neuromyotonia associated with KCNQ2 mutation. Background: Neuromyotonia is a disorder of…A novel mutation in VRK1 associated with distal spinal muscular atrophy
Objective: To elucidate the underlying genetic cause of dSMA in a Chinese family with two affected siblings. Background: Distal spinal muscular atrophy (dSMA), also called…Dissecting molecular signatures of X-linked dystonia-parkinsonism (XDP) through integrative genomics studies
Objective: To determine the causal locus and functional mechanism associated with XDP using integrative genomics methods in patient-derived and genome-edited induced pluripotent stem cell (iPSC)…A new distinct spastic ataxia with hypomyelination: Clinical, neuroimaging and molecular expression of NKX6-2 mutations
Objective: To identify the phenotypic, neuroimaging and genotype-phenotype expression of NKX6-2 mutations. Background: Despite advances in genetic testing a large number of hyopomyelinating disorders remain…Epigenetic silencing in the humanized mouse model of Friedreich ataxia
Objective: To investigate if DNA hypermethylation of the abnormal FXN gene in Friedreich ataxia is present in disease-relevant tissues and if it is tissue-, repeat-,…Compound-heterozygous mutations in VPS13D are a novel cause of spastic ataxia and lead to mitochondrial dysfunction
Objective: To identify the genetic cause in two sisters with spastic ataxia and to functionally characterize mitochondrial function in patient-derived cells. Background: Spastic ataxia is…Familial SCA2-parkinsonism presented as intractable oromandibular dystonia
Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation. Background: We previously described a Korean…Atypical presentation of PANK2 mutation: A case report
Objective: To describe an atypical presentation of a PANK2 mutation. Background: PKAN (Pantothenate-Kinase-Associated Neurodegeneration) is the most common NBIA (Neurodegeneration with brain iron accumulation) disorder,…Autosomal dominant PANK2 mutation resulting in cervical dystonia with iron accumulation in the basal ganglia
Objective: Identification and functional analysis of the disease-causing gene in a family with dominantly inherited cervical dystonia. Background: With the introduction of next generation sequencing…The role of Genes and Gene x Environment Determinants of Stress in the pathogenesis of Functional Neurological Disorders
Objective: The aim of the current study was to evaluate the association between common single nucleotide polymorphisms (SNPs) at the level of genetic loci involved…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.