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A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia.

Abstract
We report a novel variant of DHDDS mutation in a patient with progressive adult-onset myoclonus ataxia. The mutation in our patient was different from previous reports of denovo mutations in DHDDS in 6 patients who showed tremor-like myoclonus and generalized epilepsy.
AuthorsJinhee Kim, Ilsoo Kim, Seong-Beom Koh
JournalParkinsonism & related disorders (Parkinsonism Relat Disord) Vol. 87 Pg. 135-136 (06 2021) ISSN: 1873-5126 [Electronic] England
PMID34034154 (Publication Type: Case Reports, Letter)
CopyrightCopyright © 2021 Elsevier Ltd. All rights reserved.
Chemical References
  • Alkyl and Aryl Transferases
  • dehydrodolichyl diphosphate synthetase
Topics
  • Age of Onset
  • Alkyl and Aryl Transferases (genetics)
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Myoclonic Epilepsies, Progressive (diagnosis, genetics, physiopathology)

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