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.

中文翻译：

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皮克氏病：21例的临床病理特征。

背景匹克氏病（PiD）是额颞叶变性的一种独特亚型，病理上以3-重复tau的聚集体为特征。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例经过尸检确认的PiD的临床特征，神经心理特征和共存的病理。方法本研究是对Mayo Clinic，Rochester或Jacksonville（1995-2018）评估的Pick病患者的回顾性分析，并通过现有数据库进行鉴定。结果确定了21例具有足够临床数据的病例。行为变异性FTD（bvFTD; 12/21）是最常见的表型，其次是原发性进行性失语症（PPA; 7/21），肾上腺皮质综合征（CBS; 1/21）和失忆性痴呆（1/21）。发病年龄中位数为54岁，PPA病例（中位数= 52岁）的出现早于bvFTD（中位数= 59）。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）之间无显着差异。与bvFTD（中位数= 68.5）相比，PPA（中位数= 66）的死亡年龄无显着差异。三分之一的病例（n = 7/21）表现为单纯的PiD病理，而其余病例则并存其他病理，包括阿尔茨海默氏病（n = 6），脑淀粉样血管病（n = 3），合并的阿尔茨海默氏病和淀粉样血管病（ n = 4）和路易体病（n = 1）。结论我们的研究表明bvFTD和PPA是与PiD相关的最常见的临床表型，尽管也很少见到诸如CBS的表现。在许多情况下，非皮克氏病也并存。