A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia. (June 2021)

• Record Type: Journal Article
• Authors: Kim, Jinhee; Kim, Ilsoo; Koh, Seong-Beom
• Is Part Of: Parkinsonism & related disorders. Volume 87(2021)
• Page Start: 135
• Page End: 136
• Publication Date: 2021-06
• Subjects: Progressive myoclonus ataxia -- Progressive myoclonic epilepsy -- DHDDS mutation; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2021.05.010
• Languages: English
• ISSNs: 1353-8020

Abstract

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.