Founder effect in (TTTTA)exp(TTTCA)exp and pure (TTTTA)exp in familial cortical myoclonic tremor with epilepsy type 1-SAMD12 locus
Objective: To detect the founder effect between familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) patients with (TTTTA)exp(TTTCA)exp (exp, expansion) in SAMD12 and healthy controls with…Intergenerational repeat instability of TTTCA expansions in SAMD12 might be the major cause of the genetic anticipation in familial cortical myoclonic tremor with epilepsy
Objective: To delineate and analyze the relationship between genetic and clinical features in 78 patients from 23 familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1) pedigrees. Background:…Ataxia and action myoclonus with biallelic mutations in ATP13A2 gene
Objective: Here we report a patient with late-onset ataxia-myoclonus syndrome harboring mutations in the ATP13A2 gene. Background: Mutations in ATP13A2 gene have been causally associated…A case report of myoclonus-dystonia with isolated myoclonus phenotype and novel mutation successfully treated with deep brain stimulation
Objective: Report the case of a patient with a novel SGCE gene mutation and isolated myoclonus phenotype who was successfully treated with deep brain stimulation…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,…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…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.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.