Pick's disease: clinicopathologic characterization of 21 cases
Pick's disease: clinicopathologic characterization of 21 cases
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DOI：
10.1007/s00415-020-09927-9
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发表时间：
2020-05-21
影响因子：
6
通讯作者：
Boeve, Bradley F.
中科院分区：
文献类型：
--
作者：
Choudhury, Parichita;Scharf, Eugene L.;Boeve, Bradley F.
皮克病（Pick's disease，PiD）是一种独特的额颞叶变性亚型，其病理特征为3-重复tau蛋白的聚集。很少有研究检查PiD的临床变异性和疾病进展。我们描述了21例尸检证实的PiD的临床特征，神经心理学特征和共存的病理。方法本研究回顾性分析了在马约诊所、罗切斯特或杰克逊维尔（1995-2018年）接受评估并通过现有数据库识别的皮克病患者。结果21例临床资料完整。行为变体FTD（bvFTD;其次为原发性进行性失语（PPA; 7/21）、皮质基底综合征（CBS; 1/21）和遗忘性痴呆（1/21）。发病时的中位年龄为54岁，PPA病例（中位年龄= 52岁）比bvFTD（中位年龄= 59岁）更早出现。中位疾病持续时间（发病-死亡）总体为10年，bvFTD（中位= 9.5年）和PPA（中位= 13年）之间无显著差异。PPA组（中位数= 66）与bvFTD组（中位数= 68.5）的死亡年龄无显著差异。三分之一的病例（n = 7/21）表现出纯粹的PiD病理，而其余病例显示出共存的其他病理，包括阿尔茨海默氏症型（n = 6）、脑淀粉样血管病（n = 3）、阿尔茨海默氏症和淀粉样血管病（n = 4）和路易体病（n = 1）。结论我们的研究表明，bvFTD和PPA是最常见的与PiD相关的临床表型，尽管也观察到罕见的表现，如CBS。在许多病例中还存在共存的非Pick病理学。我们的研究强调了PiD的临床和病理异质性。
Background Pick's disease (PiD) is a unique subtype of frontotemporal lobar degeneration characterized pathologically by aggregates of 3-Repeat tau. Few studies have examined the clinical variability and disease progression in PiD. We describe the clinical features, neuropsychological profiles and coexistent pathologies in 21 cases of autopsy-confirmed PiD. Methods This study was a retrospective analysis of patients with Pick's disease evaluated at Mayo Clinic, Rochester or Jacksonville (1995-2018), and identified through an existing database. Results Twenty-one cases with sufficient clinical data were identified. Behavioral variant FTD (bvFTD; 12/21) was the most common phenotype, followed by primary progressive aphasia (PPA; 7/21), corticobasal syndrome (CBS; 1/21) and amnestic dementia (1/21). Median age at disease onset was 54 years, with PPA cases (median = 52 years) presenting earlier than bvFTD (median = 59). Median disease duration (onset-death) overall was 10 years and did not differ significantly between bvFTD (median = 9.5 years) and PPA (median = 13). Age at death was not significantly different in PPA (median = 66) compared to bvFTD (median = 68.5). A third of the cases (n = 7/21) demonstrated pure PiD pathology, while the remainder showed co-existent other pathologies including Alzheimer's type (n = 6), cerebral amyloid angiopathy (n = 3), combined Alzheimer's and amyloid angiopathy (n = 4), and Lewy body disease (n = 1). Conclusions Our study shows that bvFTD and PPA are the most common clinical phenotypes associated with PiD, although rare presentations such as CBS were also seen. Coexisting non-Pick's pathology was also present in many cases. Our study highlights the clinical and pathologic heterogeneity in PiD.