Parkinson's Disease and Movement Disorders Clinic, Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel2Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas.
JAMA Neurol. 2014 Dec;71(12):1567-72. doi: 10.1001/jamaneurol.2014.1364.
Genetic diseases often cluster in different ethnic groups and may present with recognizable unique clinical manifestations.
To summarize current knowledge about movement disorders overrepresented among patients of Jewish ancestry.
We searched PubMed and the OMIM and Israeli National Genetic Databases for articles published from 1969 through March 31, 2014, using the search terms Parkinson's disease,movement disorders, ataxia, dystonia, chorea, and Creutzfeldt-Jakob with and Jewish. The final reference list was generated by giving priority to articles directly related to the topic, articles with the latest information, and comprehensive but relevant reviews.
About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both. This finding contrasts with only a 10% frequency of these mutations in patients with PD who are of non-Jewish ancestry. A dystonia due to a TOR1A gene mutation is responsible for most early-onset autosomal dominant dystonia, and 90% of Ashkenazi Jews who develop early-onset disease have TOR1A-related dystonia. Familial Creutzfeldt-Jakob disease and cerebrotendinous xanthomatosis tend to cluster among Jews of North African descent, and Machado-Joseph disease is particularly frequent in Yemenite Jews.
Genetic forms of PD are much more common in patients of Ashkenazi Jewish ancestry with sporadic and familial PD than in the non-Jewish population. The recognition of the particular movement disorder phenotype, coupled with information about the ethnic origin of the patients, may point to specific genetic testing and lead to early and correct diagnosis.
遗传疾病通常在不同的族群中聚集，并且可能表现出可识别的独特临床表现。
总结目前关于犹太裔患者中常见的运动障碍的知识。
我们在 PubMed 和 OMIM 以及以色列国家基因数据库中，使用了帕金森病、运动障碍、共济失调、肌张力障碍、舞蹈病和克雅氏病的搜索词，并结合犹太人和犹太血统进行了搜索，从 1969 年到 2014 年 3 月 31 日搜索了已发表的文章。最后参考列表是通过优先考虑与主题直接相关的文章、最新信息的文章以及全面但相关的综述生成的。
大约三分之一的散发性帕金森病（PD）患者和超过 40%的家族性 PD 患者具有 LRRK2 基因的 G2019S 突变、葡萄糖脑苷脂酶（GBA）基因突变或两者都有。这一发现与非犹太裔 PD 患者中这些突变的 10%的频率形成对比。由于 TOR1A 基因突变引起的肌张力障碍是大多数早发性常染色体显性遗传的肌张力障碍的原因，并且 90%的发生早发性疾病的 Ashkenazi 犹太人都有 TOR1A 相关的肌张力障碍。家族性克雅氏病和脑腱黄瘤病倾向于聚集在北非裔犹太人中，而 Machado-Joseph 病在也门犹太人中尤为常见。
在散发性和家族性 PD 的 Ashkenazi 犹太裔患者中，与非犹太裔人群相比，PD 的遗传形式更为常见。识别特定的运动障碍表型，加上患者种族起源的信息，可能指向特定的基因检测，并导致早期和正确的诊断。
