Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy

Noriko Togashi, Atsushi Fujita, Moriei Shibuya, Saki Uneoka, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Kazutaka Jin, Naomichi Matsumoto, Kazuhiro Haginoya

Research output: Contribution to journalArticle

Abstract

Background: Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants. Case presentation. We report on a long term follow-up of patient with de novo missense variant of DHDDS, who revealed non progressive nature. This 18-year-old woman presented non-progressive tremor since her early infancy. She had rare seizures. Her tremor was considered as cortical myoclonic tremor with giant somatosensory evoked potentials. Conclusion: In patients with early onset, non-progressive tremor and rare generalized epilepsy phenotypes, DHDDS variants may be considered in the genetic differential diagnosis.

Original languageEnglish
Pages (from-to)696-699
Number of pages4
JournalBrain and Development
Volume42
Issue number9
DOIs
Publication statusPublished - 2020 Oct

Keywords

  • BAFME
  • Benign adult familial myoclonus epilepsy
  • DHDDS
  • Dystonia
  • Generalized epilepsy
  • Myoclonic tremor

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy'. Together they form a unique fingerprint.

  • Cite this

    Togashi, N., Fujita, A., Shibuya, M., Uneoka, S., Miyabayashi, T., Sato, R., Okubo, Y., Endo, W., Inui, T., Jin, K., Matsumoto, N., & Haginoya, K. (2020). Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy. Brain and Development, 42(9), 696-699. https://doi.org/10.1016/j.braindev.2020.06.011