一名患有多发性硬化症和杂合性葡萄糖脑苷脂酶基因突变患者的帕金森病
Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation.
作者信息
Delalić Sentilija, Rus Tomaž, Horvat Ledinek Alenka, Kojović Maja, Georgiev Dejan
机构信息
Department of Neurology, Izola General Hospital, Izola, Slovenia.
Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
出版信息
Clin Park Relat Disord. 2020 Apr 30;3:100055. doi: 10.1016/j.prdoa.2020.100055. eCollection 2020.
More than 30 patients with multiple sclerosis (MS) and Parkinson's disease (PD) have been reported so far. Theories on the co-occurrence of MS and PD range from coincidental to causal. There has been only one report of MS in young onset PD in a patient heterozygous for mutation. We report a patient with MS who developed signs typical for PD and was found to be heterozygous mutation carrier in the gene for glucocerebrosidase (), a well-known risk factor for PD.
迄今为止，已有30多名多发性硬化症（MS）和帕金森病（PD）患者被报道。关于MS和PD共现的理论从巧合到因果关系都有。在一名杂合子突变患者的早发性PD中仅有一例MS的报道。我们报告了一名患有MS的患者，其出现了PD的典型症状，并且被发现是葡糖脑苷脂酶（）基因的杂合子突变携带者，该基因是PD的一个众所周知的风险因素。
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