Rosso Sonia M, Donker Kaat Laura, Baks Timo, Joosse Marijke, de Koning Inge, Pijnenburg Yolande, de Jong Daniëlle, Dooijes Dennis, Kamphorst Wouter, Ravid Rivka, Niermeijer Martinus F, Verheij Frans, Kremer H P, Scheltens Philip, van Duijn Cornelia M, Heutink Peter, van Swieten John C
Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.
Brain. 2003 Sep;126(Pt 9):2016-22. doi: 10.1093/brain/awg204. Epub 2003 Jul 22.
Since 1994, a population-based study of frontotemporal dementia (FTD) in The Netherlands has aimed to ascertain all patients with FTD, and first prevalence estimates based on 74 patients were reported in 1998. Here, we present new prevalence estimates after expansion of our FTD population to 245 patients, with emphasis on the prevalence in the province Zuid-Holland where the main study centre is located. All neurologists and physicians in nursing homes received a yearly postal enquiry about suspected FTD cases. FTD was diagnosed in 245 patients according to the Lund-Manchester criteria, supported by neuroimaging and neuropsychology. tau mutation analysis was performed in a subgroup of 154 patients (63%), and 40 out of 98 patients (41%) who died during follow-up were autopsied during the course of the study. The prevalence of FTD in the province Zuid-Holland was 3.6 per 100,000 at age 50-59 years, 9.4 per 100,000 at age 60-69 years and 3.8 per 100,000 at age 70-79 years. The median age at onset of the 245 patients (51% female) was 58.0 years (range 33-80 years). Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). Pathological findings in the 40 autopsied patients consisted of dementia lacking distinctive histology in 22%, FTD with ubiquitin-positive inclusions in 33%, Pick's disease in 15% and tauopathy in the remaining 30% of patients, with tau mutations identified in more than half of the latter patients. We conclude that the prevalence of FTD in The Netherlands is higher than previously reported, confirming that FTD is more common than was previously thought. The finding of tau mutations in 32% of patients with a positive family history for dementia justifies mutation screening in FTD patients with a positive family history, while tau mutations in non-familiar cases are rare.
自1994年以来，荷兰一项基于人群的额颞叶痴呆（FTD）研究旨在确定所有FTD患者，并于1998年报告了基于74例患者的首次患病率估计值。在此，我们报告了将FTD患者群体扩大至245例后的新患病率估计值，重点关注主要研究中心所在的南荷兰省的患病率。所有养老院的神经科医生和内科医生每年都会收到关于疑似FTD病例的邮政询问。根据Lund-Manchester标准，结合神经影像学和神经心理学检查，确诊了245例FTD患者。对154例患者（63%）的亚组进行了tau基因突变分析，在随访期间死亡的98例患者中有40例（41%）在研究过程中接受了尸检。南荷兰省50 - 59岁人群中FTD的患病率为每10万人3.6例，60 - 69岁人群中为每10万人9.4例，70 - 79岁人群中为每10万人3.8例。245例患者（51%为女性）的发病年龄中位数为58.0岁（范围33 - 80岁）。43%的患者有一个或多个一级家庭成员患有痴呆，对tau基因的突变分析显示34例患者存在突变（19例P301L、5例L315R、4例G272V、4例R406W、1例Delta K280和1例S320F），所有这些患者都有痴呆家族史阳性（占总人口的14%，有家族史阳性患者的32%）。40例尸检患者的病理结果包括：22%为缺乏特征性组织学改变的痴呆，33%为具有泛素阳性包涵体的FTD，15%为Pick病，其余30%为tau蛋白病，后一组患者中超过一半检测到tau基因突变。我们得出结论，荷兰FTD的患病率高于先前报告，证实FTD比之前认为的更为常见。在有痴呆家族史阳性的患者中32%发现tau基因突变，这证明对有家族史阳性的FTD患者进行突变筛查是合理的，而在无家族史的病例中tau基因突变很少见。
