Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?
Objective: To report clinical and molecular features of a family showing intrafamilial phenotypic diversity where a novel ATP1A3 mutation was found. Background: Originally there have…Exome sequencing in dementia with Lewy bodies
Objective: To perform a comprehensive analysis of genes previously implicated in dementia with Lewy bodies (DLB) by exome sequencing of a pathologically confirmed DLB cohort.…The relevance of movement disorders gene panels in clinical practice: How many patients are we sorting out?
Objective: To investigate the impact of movement disorder gene panels in clinical practice and the proportion of patients receiving a definite genetic diagnosis through Next…Phenotype and genotype variability of CACNA1A in a cohort of ataxia in Taiwan
Objective: To study the phenotype and genotype variability of CACNA1A in a cohort of ataxia. Background: CACNA1A gene encodes a voltage-dependent, P/Q type calcium channel…Analysis of MAPT, GRN and C9orf72 genes in progressive supranuclear palsy, corticobasal syndrome and frontotemporal lobar degeneration in Russian population
Objective: To investigate MAPT variants and haplotypes, GRN mutations, and C9orf72 expansion in a cohort of Russian patients with progressive supranuclear palsy (PSP), cotricobasal syndrome…Familial SPG17/distal hereditary motor neuropathy type V– Complicated hereditary spastic paraplegia with many faces
Objective: We present the clinical and genetic results of a SPG17 family with a vast intrafamilial phenotype from subclinical signs to a severe and rapidly…SLC6A17 mutations are not a common cause of intellectual disability and movement disorders in a large cohort of consanguineous Iranian families
Objective: To determine the prevalence of SLC6A17 mutations in a cohort of Iranian patients with intellectual disability and movement disorders. Background: Mutations in the SLC6A17…Hyperekplexia secondary to cumulative novel glycine pathway mutations
Objective: To describe novel mutations in a case of hyperekplexia, the patient's clinical presentation and possible pathophysiological mechanism. Background: Hyperekplexia is a rare neurological disorder…Genetic analysis of eighty-seven multiple system atrophy patients
Objective: To analyze candidate genes in a cohort of 87 patients with a clinical diagnosis of probable MSA. Background: Multiple System Atrophy (MSA) is a…Clinical and genetic analyses in a cohort of the Taiwanese patients with apparently sporadic pure spastic paraplegia
Objective: To systemically screen some common spastic paraplegia genes (SPG) in the Taiwanese patients with apparently sporadic pure spastic paraplegia. Background: Hereditary spastic paraplegias (HSP)…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.