Progressive Myoclonus Ataxia: An International Database
Objective: Our aim is to create an international database for patients suffering from the rare syndrome of progressive myoclonus ataxia (PMA), containing their clinical, electrophysiological…A novel intronic pentanucleotide TTTGA repeat insertion in SAMD12 causes familial cortical myoclonic tremor with epilepsy type 1
Objective: To identify the genetic cause in a familial cortical myoclonic tremor with epilepsy (FCMTE) pedigree without reported pathogenic(TTTCA)n insertions. Background: FCMTE is an autosomal…Intronic pentanucleotide TTTCA repeat insertions do not cause familial and sporadic cortical myoclonic tremor with epilepsy in the UK
Objective: To ascertain whether intronic TTTCA repeat insertions in the SAMD12, TNRC6Aand RAPGEF2 genes cause benign adult familial myoclonic epilepsy (BAFME) and progressive myoclonic epilepsy in the UK. Background:…Movement disorders in late-onset inborn errors of metabolism – a new diagnostic algorithm
Objective: We propose a novel diagnostic algorithm to help clinicians to diagnose inborn errors of metabolism (IEM) in adolescents and adults that present with a…Myoclonus-Dystonia Syndrome Due to a Novel Mutation in the Epsilon-Sarcoglycan (SGCE) Gene
Objective: To present a case report of a patient with myoclonus-dystonia in whom a mutation in the epsilon-sarcoglycan gene which has not been previously described,…Molecular immunological action and epigenetic modification of the human papillomavirus vaccination and associated neuropsychiatric side effects
Objective: To investigate the clinical manifestations of neuropsychiatric side effects after the Human papillomavirus (HPV) vaccine, and to investigate the immunological actions and epigenetic modification.…New Nomenclature Of Genetic Myoclonus Syndromes
Objective: In collaboration with the International Parkinson and Movement Disorder Task Force for Nomenclature of Genetic Movement Disorders, we present a new classification of genetically…Siblings with a PRKRA (DYT16) Mutation and Startle Myoclonus
Objective: To characterize and expand the phenotype of a family from North-East England with DYT16. Background: DYT16 is an autosomal recessive disease associated with mutations…ADCY5 screening in paediatric-onset hyperkinetic movement disorders: Report of three new Italian families
Objective: To report three new cases with pathogenic ADCY5 mutations and describe their clinical phenotype. Background: ADCY5 is a recently identified gene responsible for a…Myoclonus Dystonia: A report of two rare mutations
Objective: To present the results of genetic analysis of three patients who presented to our clinic with Myoclonus Dystonia. Background: Myoclonus Dystonia (MD) is a…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.