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:…Lingual myoclonus associated with brain metastasis located near the primary tongue motor cortex: case report.
Objective: To report a case of a patient with lung cancer who developed lingual myoclonus, revealing brain metastases. Background: Lingual myoclonus has been described associated…Myoclonic epilepsy with ragged-red fibers: the first described clinical case in Ukraine
Objective: To provide a description of a case of myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed in Kyiv, Ukraine. Background: MERRF is a rare mitochondrial…Visual cortex involvement in the familial cortical myoclonic tremor with epilepsy type 1: a resting state-fMRI with regional homogeneity analysis
Objective: The purpose of current study was to investigate regional synchronization of the whole brain in patients with familial cortical myoclonic tremor with epilepsy (FCMTE)…A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy
Objective: To report for the first time on a detailed description of the phenotype, natural history and quality of life (QoL) in a relatively large…PRRT2 mutations are associated with a wide intrafamilial ad interfamilial phenotypic variability
Objective: To describe the different clinical syndromes associated with PRRT2 mutations in two different families Background: Mutations in the Proline-Rich Transmembrane Protein 2 (PRRT2) gene…Multi-modal MRI in patients with genetically confirmed familial cortical myoclonic tremor with epilepsy type 1
Objective: The present study utilized multi-modal MRI study to investigate the structural and functional alterations in genetically confirmed familial cortical myoclonic tremor with epilepsy type…Dentatorubral-Pallidoluysian Atrophy outside of Asia: A case report of the first Austrian family harbouring this rare mutation
Objective: To report clinical features of the first Austrian family with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a progressive disorder with an autosomal-dominant mode of…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:…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.