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…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…A pilot study of whole exome sequencing in progressive supranuclear palsy
Objective: To identify genetic variants associated with Progressive Supranuclear Palsy (PSP) using whole exome sequencing. Background: PSP is a rare tauopathy but is the second…The distinguishing clinical features of rapid-onset-parkinson-dystonia (RDP) syndrome due to ATP1A3 mutations
Objective: To determine characteristics that distinguish individuals with presentation suggestive of RDP in ATP1A3 mutation carriers compared with non-carriers. Background: Mutations in the ATP1A3 gene…A rare genetic transcriptomopathy syndrome involving TAF1 leading to insights into more common neurologic disorders, including X-linked dystonia-parkinsonism (XDP)
Objective: We set out to discover the genetic basis of an X-linked genetic syndrome presenting with global developmental delay, intellectual disability, characteristic facial dysmorphology, generalized…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.