KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation

Our long-term data underscore the progressive but heterogeneous course of <i>DYT-KMT2B</i>. GPi DBS offers durable clinical benefits, particularly when initiated before loss of ambulation. Early surgical intervention and multidisciplinary management are essential to optimize long-term outcomes.

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Publication Details

Journal
Frontiers in Neurology
Published
2026-02-09
DOI
https://doi.org/10.3389/fneur.2026.1727854
Primary Topic
Neurological disorders and treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation

A. Langer, P Mahlknecht, Anna Lena Eberl, Wolfgang M. Schmidt et al.
Frontiers in Neurology
Neurological disorders and treatments
article

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation

A. Langer, P Mahlknecht, Anna Lena Eberl, Wolfgang M. Schmidt, S. M. Boesch, Katherina Mair, Michael Zech, Sandy Siegert, Elisabetta Indelicato, Anna Hussl
article en

Abstract

Our long-term data underscore the progressive but heterogeneous course of <i>DYT-KMT2B</i>. GPi DBS offers durable clinical benefits, particularly when initiated before loss of ambulation. Early surgical intervention and multidisciplinary management are essential to optimize long-term outcomes.

Frontiers in NeurologyVol. 17
Innsbruck Medical University (AT), Helmholtz Zentrum München (DE), Centre for Movement Disorders (CA), Institute of Human Genetics (PL), Technical University of Munich (DE), Medical University of Vienna (AT)
Openalex Percentile: Top 64%
Neurological disorders and treatments
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