TMEM151A作为发作性运动诱发性运动障碍中PRRT2的替代物：关于三例新病例
TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases.
作者信息
Mounir Alaoui Othman, Charbonneau Pierre-François, Prin Pauline, Mongin Marie, Choquer Mathilde, Damier Philippe, Riant Florence, Degos Bertrand
机构信息
Service de Neurologie, Avicenne Hospital, APHP, Hôpitaux Universitaires de Paris-Seine Saint Denis (HUPSSD), Sorbonne Paris Nord, réseau NS-PARK/FCRIN, Bobigny, France.
Service de Neurologie, CIC1314, CHU de Nantes, France.
出版信息
Parkinsonism Relat Disord. 2023 Mar;108:105295. doi: 10.1016/j.parkreldis.2023.105295. Epub 2023 Jan 27.
Paroxysmal kinesigenic dyskinesia (PKD) are movement disorders triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. We report three patients presenting PKD with different TMEM151A mutations, two of which have not been described yet.
发作性运动诱发性运动障碍（PKD）是由突然的随意运动引发的运动障碍。最近，TMEM151A基因的变异与PKD的发生有关。我们报告了三名患有PKD且携带不同TMEM151A突变的患者，其中两个突变尚未见报道。
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