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Letter| Volume 438, 120295, July 15, 2022

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Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant

Published:May 23, 2022DOI:https://doi.org/10.1016/j.jns.2022.120295
Pallidal deep brain stimulation response in two siblings with atypical adult-onset dystonia related to a KMT2B variant
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      Highlights

      • •
        Missense variants of uncertain significance in KMT2B may be related to a later dystonia onset in adulthood.
      • •
        KMT2B related dystonia has a favourable response to GPi-DBS.
      • •
        KMT2B related dystonia may present with cervical and axial predominant phenotype.

      Keywords

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      References

        • Zech M.
        • Boesch S.
        • Maier E.M.
        • et al.
        Haploinsufficiency of KMT2B, encoding the lysine-specific histone methyltransferase 2b, results in early-onset generalized dystonia.
        Am. J. Hum. Genet. 2016; 99: 1377-1387https://doi.org/10.1016/j.ajhg.2016.10.010
        View in Article
        • Meyer E.
        • Carss K.J.
        • Rankin J.
        • et al.
        Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
        Nat. Genet. 2017; 49: 223-237https://doi.org/10.1038/ng.3740
        View in Article
        • Zech M.
        • Lam D.D.
        • Winkelmann J.
        Update on KMT2B-related dystonia.
        Curr. Neurol. Neurosci. Rep. 2019; 19https://doi.org/10.1007/s11910-019-1007-y
        View in Article
        • Zech M.
        • Jech R.
        • Havránková P.
        • et al.
        KMT2B rare missense variants in generalized dystonia.
        Mov. Disord. 2017; 32: 1087-1091https://doi.org/10.1002/mds.27026
        View in Article
        • Ng A.
        • Galosi S.
        • Salz L.
        • et al.
        Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
        BMC Neurol. 2020; 20: 4-9https://doi.org/10.1186/s12883-020-01798-x
        View in Article
        • Winslow N.
        • Maldonado A.
        • Zayas-Rodriguez L.
        • et al.
        Adult-onset KMT2B- related dystonia responsive to deep brain stimulation.
        Mov. Disord. Clin. Pract. 2020 Oct 17; 7: 992-993https://doi.org/10.1002/mdc3.13093
        View in Article
        • Ma J.
        • Wang L.
        • Yang Y.
        • et al.
        Identification of novel KMT2B variants in Chinese dystonia patients via whole-exome sequencing.
        Front. Neurol. 2019; 10: 1-6https://doi.org/10.3389/fneur.2019.00729
        View in Article
        • Cif L.
        • Demailly D.
        • Lin J.
        • et al.
        KMT2B -related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
        Brain. 2020 Nov 1; 143: 3242-3261https://doi.org/10.1093/brain/awaa304
        View in Article
        • Carecchio M.
        • Invernizzi F.
        • Gonzàlez-Latapi P.
        • et al.
        Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study.
        Mov. Disord. 2019; 34: 1516-1527https://doi.org/10.1002/mds.27771
        View in Article
        • Rajan R.
        • Garg K.
        • Saini A.
        • et al.
        GPi-DBS for KMT2B-associated dystonia: systematic review and meta-analysis.
        Mov. Disord. Clin. Pract. 2022 Jan 4; 9: 31-37https://doi.org/10.1002/mdc3.13374
        View in Article

      Article info

      Publication history

      Published online: May 23, 2022
      Accepted: May 18, 2022
      Received in revised form: March 5, 2022
      Received: January 18, 2022

      Identification

      DOI: https://doi.org/10.1016/j.jns.2022.120295

      Copyright

      © 2022 Elsevier B.V. All rights reserved.

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