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…Intronic pentanucleotide TTTCA repeat insertion in SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the causative mutation in pedigrees with familial cortical myoclonic tremor with epilepsy (FCMTE) type 1. Background: FCMTE is an autosomal dominant neurodegenerative…Analysis of secondary causes in Fahr’s syndrome and whole exome sequencing in Fahr disease from Northeast China and South Korean
Objective: In this study, patients with Fahr syndrome were analyzed for etiology, and genetic testing was performed for patients with Fahr disease from Northeast China…Novel missense variants in KMT2B in segmental dystonia
Objective: To report and describe two novel missense mutations in KMT2B identified in two dystonia patients from China. Background: Recently, two independent groups have reported…Clinical and genetic heterogeneity in portuguese patients with Hereditary Spastic Paraplegia
Objective: To characterize the demographic, clinical and genetic features of HSP and to define the phenotypic spectrum and genotype-specific differences. Background: Hereditary spastic paraplegia (HSP)…Perry syndrome: Proposal of international diagnostic criteria and a new disease concept
Objective: To propose international diagnostic criteria for Perry syndrome and a new disease concept. Background: Perry syndrome is a rare autosomal dominant neurodegenerative disease characterised…Expanding the clinical phenotype of autosomal recessive spinocerebellar ataxia with Adult onset; a collection of case series
Objective: We present a case series of adult onset ataxia with variability in genetic mutations, yet common clinical phenotypic presentations that constitute the autosomal recessive…Genetic analysis of Wilson’s disease in Taiwan
Objective: Genetic analysis of Taiwanese patients with Wilson’s disease. Background: Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism. The genetic cause is…Cervical dystonia in Modigliani’s paintings: The clue was the sensory trick
Objective: To confirm that Jeanne Hebuterne, Modigliani's muse, suffered from cervical dystonia Background: Amedeo Modigliani was one of the most outstanding painters of the XX…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.