> Merkliste Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
Medientyp: E-Artikel Titel: RELN rare variants in myoclonus‐dystonia Beteiligte: Groen, Justus L.; Ritz, Katja; Jalalzadeh, Hamid; van der Salm, Sandra M.A.; Jongejan, Aldo; Mook, Olaf R.; Haagmans, Martin A.; Zwinderman, Aeilko H.; Motazacker, Mahdi M.; Hennekam, Raoul C.; Baas, Frank; Tijssen, Marina A.J. Erschienen: Wiley, 2015 Erschienen in: Movement Disorders, 30 (2015) 3, Seite 415-419 Sprache: Englisch DOI: 10.1002/mds.26070 ISSN: 1531-8257; 0885-3185 Entstehung: Anmerkungen: Beschreibung: AbstractBackgroundMyoclonus‐dystonia (M‐D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M‐D cases are caused by mutations in the epsilon‐sarcoglycan gene. In remaining M‐D patients, no genetic factor has been established, indicating genetic heterogeneity.MethodsPatients were included in a prospective clinical database and recruited from referral centers and general neurology clinics in The Netherlands. To investigate new genetic causal factors in M‐D syndrome, we performed homozygosity mapping combined with exome sequencing in a three‐generation M‐D family and genetically screened 24 additional patients with M‐D.ResultsWe found co‐segregation of the rare missense variant Thr1904Met in the RELN gene. By additional screening of an M‐D cohort, we identified co‐segregation of RELN variants in two families (Thr1904Met, Ile1217Met) and identified two sporadic RELN mutation carriers (Pro1703Arg, Leu411Ile). Taken together, five of 25 SGCE‐negative M‐D patients carried RELN rare missense variants.ConclusionWe propose that RELN mutations contribute to the genetic heterogeneity of M‐D. Reelin is a large secreted glycoprotein that plays essential roles in the cytoarchitecture of laminated brain structures and modulation of synaptic transmission and plasticity. © 2015 International Parkinson and Movement Disorder Society