一种伴有成人起病的进行性肌阵挛性共济失调的脱氢多萜醇二磷酸合酶（DHDDS）突变的新型变体。
A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia.
作者信息
Kim Jinhee, Kim Ilsoo, Koh Seong-Beom
机构信息
Department of Neurology and Parkinson's Disease Center, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea.
Department of Neurology and Parkinson's Disease Center, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea.
出版信息
Parkinsonism Relat Disord. 2021 Jun;87:135-136. doi: 10.1016/j.parkreldis.2021.05.010. Epub 2021 May 18.
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.
我们报告了一名患有成人起病的进行性肌阵挛共济失调患者的DHDD基因的一种新型突变。我们患者的这种突变与先前报道的6例表现为震颤样肌阵挛和全身性癫痫的DHDD基因新发突变不同。
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