An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus

We present a boy with KMT2B‐related dystonia (DYT‐KMT2B), a recently identified early‐onset generalized dystonia. He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclon...

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Bibliographic Details
Published in:Neurology and clinical neuroscience 2020-01, Vol.8 (1), p.36-38
Main Authors: Miyata, Yohane, Hamanaka, Kohei, Kumada, Satoko, Uchino, Shumpei, Yokochi, Fusako, Taniguchi, Makoto, Miyatake, Satoko, Matsumoto, Naomichi
Format: Article
Language:English
Subjects:
asterixis
Basal ganglia
Deep brain stimulation
Dystonia
Globus pallidus
KMT2B
lysine‐specific histone methyltransferase 2B
Myoclonus
Tremor
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Summary:We present a boy with KMT2B‐related dystonia (DYT‐KMT2B), a recently identified early‐onset generalized dystonia. He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclonus and tremor, can be seen in patients with DYT‐KMT2B, asterixis has not been reported. This is also the first report which shows the beneficial effect of bilateral GPi‐DBS for asterixis, suggesting that dysfunction of the cortico‐basal ganglia‐thalamo‐cortical circuit may be involved in its pathomechanism.
ISSN:2049-4173
2049-4173
DOI:10.1111/ncn3.12334