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)…Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family
Objective: To report two siblings affected by Chediak-Higashi syndrome (CHS) presenting with a pure neurological phenotype including paediatric and adult-onset parkinsonism. Background: CHS is a…Intracranial calcifications in children and adults: Molecular and phenotypic characterization from a tertiary referral centre
Objective: To analyze a series of pediatric and adult patients with idiopathic intracranial calcification by a dedicated gene panel through targeted re-sequencing TruSeq Custom Amplicon.…Mutational analysis of GNAL gene in isolated dystonia patients from Spain
Objective: To study the frequency and spectrum of GNAL genetic variations in a large population of isolated dystonia (DT) patients from Spain. Background: GNAL encodes…Correlation among DNA methylation status and LINE-1 expression in rat brain
Objective: Our objectives were to study the transcriptional expression of L1Rn elements in different brain regions and correlate with corresponding DNA methylation levels. Methods: Real…A novel phenotype associated with GRN mutations: Spastic ataxia
Objective: We report a patient with Spastic Ataxia caused by new homozygous mutations in the GRN gene. Background: The gene GRN located on chromosome 17…A clinico-genetical study in a large cohort of patients with spastic paraplegia type 4 (SPG4)
Objective: This study includes the evaluation of a comprehensive spectrum of neurological features and the mutational screening of the SPG4/SPAST gene in patients with hereditary…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.