Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

doi:10.1093/brain/awab360

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Article

Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.

Brain : a journal of neurology - 18 Apr 2022

Mirza-Schreiber Nazanin, Zech Michael, Wilson Rory, Brunet Theresa, Wagner Matias, Jech Robert, Boesch Sylvia, Škorvánek Matej, Necpál Ján, Weise David, Weber Sandrina, Mollenhauer Brit, Trenkwalder Claudia, Maier Esther M, Borggraefe Ingo, Vill Katharina, Hackenberg Annette, Pilshofer Veronika, Kotzaeridou Urania, Schwaibold Eva Maria Christina, Hoefele Julia, Waldenberger Melanie, Gieger Christian, Peters Annette, Meitinger Thomas, Schormair Barbara, Winkelmann Juliane, Oexle Konrad

Abstract excerpt

Dystonia is a prevalent, heterogeneous movement disorder characterized by involuntarily abnormal postures. Biomarkers of dystonia are notoriously lacking. Here, a biomarker is reported for histone lysine methyltransferase (KMT2B)-deficient dystonia, a leading subtype among the individually rare monogenic dystonias. It was derived by applying a support vector machine to an episignature of 113 DNA CpG sites, which,...

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PMID: 34590685
DOI: 10.1093/brain/awab360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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