Legris Nicolas, Chassin Olivier, Nasser Ghaidaa, Riant Florence, Tournier-Lasserve Elisabeth, Denier Christian
Neurology Department, Bicêtre Hospital, Assistance Publique des Hôpitaux de Paris, (AP-HP), Paris, France.
Neurology Department, Bicêtre Hospital, Assistance Publique des Hôpitaux de Paris, (AP-HP), Paris, France.
J Stroke Cerebrovasc Dis. 2019 Feb;28(2):e3-e4. doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. Epub 2018 Nov 28.
PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic gait occurring after swimming. Brain MRI showed a hyperintense cerebellar lesion on diffusion-weighted imaging (DWI) with decreased apparent diffusion coefficient. The clinical course was favorable. Both clinical and MRI abnormalities regressed. Her brother had presented PKD since adulthood. A C.649dupC PRRT2 truncating mutation was identified in both patients. To our knowledge, this is the first case of an acute cerebellar ataxia associated with heterozygous PRRT2 mutation and transient cerebellar hyperintensity on DWI. Among the clinical and genetic heterogeneities of familial paroxysmal disorders, PRRT2 mutation may be considered in patients with episodic cerebellar ataxia and diffusion restriction on neuroimaging.
PRRT2基因突变可导致发作性运动诱发性运动障碍（PKD）、婴儿惊厥、偏瘫性偏头痛和发作性共济失调。一名21岁女性报告称游泳后出现一次头晕和共济失调步态。脑部磁共振成像（MRI）显示在扩散加权成像（DWI）上小脑病变呈高信号，表观扩散系数降低。临床病程良好。临床和MRI异常均消退。她的哥哥成年后出现了PKD。在两名患者中均鉴定出C.649dupC PRRT2截短突变。据我们所知，这是第一例与杂合性PRRT2突变相关的急性小脑性共济失调以及DWI上小脑短暂高信号的病例。在家族性发作性疾病的临床和遗传异质性中，对于发作性小脑性共济失调且神经影像学上有扩散受限的患者，可能需要考虑PRRT2突变。
