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Phenotypic Differences in Dyt1 Between Ethnic Groups

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Abstract

A DYT1 mutation is the most common genetic cause of early-onset primary torsion dystonia. Herein we present the phenotypes of 25 Korean dystonia patients with DYT1 mutations. We further compare the clinical features of the Asian patients with those of the Western DYT 1 mutation patients. In Korean patients, upper extremity was the most common site of symptom onset while there were a few patients with axial-onset dystonia. Generalized dystonia was the most common subtype followed by segmental dystonia. A few patients from the same families had their symptoms at the same age. The clinical features of Korean patients were similar to those of other Asian patients. The Asian patients were differentiated from Western patients by more frequent axial onset, no cranial involvement at onset, and more common segmental dystonia. The variable clinical manifestation in different ethnic groups may suggest that ethnicity is a significant modifier of DYT1 dystonia.

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Disclosure

Conflicts of interest: W. Lee: none; T. Ahn: none; S.J. Chung: none; B.S. Jeon: has received grant support from SNUH; and has received travel/accommodations/meeting expenses unrelated to activities listed from Korean Neurological Association, Korean Movement Disorder Society.

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Authors and Affiliations

  1. Movement Disorder Center, Seoul National University Hospital, 101 Daehak-ro Jongno-gu, Seoul, 110-744, South Korea

    Woong-Woo Lee

  2. Department of Neurology, College of Medicine, Kyung Hee University, 23 Kyungheedae-ro Dongdaemun-gu, Seoul, 132-872, South Korea

    Tae-Beom Ahn

  3. Department of Neurology, College of Medicine, Ulsan University, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 138-736, South Korea

    Sun Ju Chung

  4. Department of Neurology and Movement Disorder Center, Seoul National University Hospital, 101 Daehak-ro Jongno-gu, Seoul, 110-744, South Korea

    Beom Seok Jeon

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  1. Woong-Woo Lee
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Correspondence to Beom Seok Jeon.

Additional information

Woong-Woo Lee and Tae-Beom Ahn these authors equally contributed to this work.

This research was supported by Basic Science Research Program through the National Research Foundation of Korea(NRF) funded by the Ministry of Education, Science and Technology (2010-0021653).

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Lee, WW., Ahn, TB., Chung, S.J. et al. Phenotypic Differences in Dyt1 Between Ethnic Groups. Curr Neurol Neurosci Rep 12, 341–347 (2012). https://doi.org/10.1007/s11910-012-0285-4

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