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Zech, M. ; Lam, D.D. ; Winkelmann, J.

Update on KMT2B-related dystonia.

Curr. Neurol. Neurosci. Rep. 19:92 (2019)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Purpose of Review To summarize the molecular and clinical findings of KMT2B-related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome. Recent Findings Since first described in 2016, 66 different KMT2B-affecting variants, encompassing a set of frameshift, nonsense, splice-site, missense, and deletion mutations, have been reported in 76 patients. Most mutations are de novo and expected to mediate epigenetic dysregulation by inducing KMT2B haploinsufficiency. DYT-KMT2B is characterized phenotypically by limb-onset childhood dystonia that tends to spread progressively, resulting in generalized dystonia with cranio-cervical involvement. Co-occuring signs such as intellectual disability are frequently observed. Sustained response to deep brain stimulation (DBS), including restoration of independent ambulation, is seen in 93% (27/29) of patients. DYT-KMT2B is emerging as a prevalent monogenic dystonia. Childhood-onset dystonia presentations should prompt a search for KMT2B mutations, preferentially via next-generation-sequencing and genomic-array technologies, to enable specific counseling and treatment. Prospective multicenter studies are desirable to establish KMT2B mutational status as a DBS outcome predictor.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Korrespondenzautor
Schlagwörter Generalized Dystonia ; Childhood Dystonia ; De Novo Mutation ; Haploinsufficiency ; Lysine-specifc Methyltransferase Family ; Deep Brain Stimulation; De-novo Mutations; Kmt2b; Variants; Mll2; Haploinsufficiency; Schizophrenia; Phenotype; Sequence; Insights; Deletion
ISSN (print) / ISBN 1528-4042
e-ISSN 1534-6293
Zeitschrift Current Neurology and Neuroscience Reports
Quellenangaben Band: 19, Heft: 11, Seiten: , Artikelnummer: 92 Supplement: ,
Verlag Current Science Inc.
Verlagsort One New York Plaza, Suite 4600, New York, Ny, United States
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)