Departments of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA).
Biomedical, Experimental and Clinical Sciences "Mario Serio," Nuclear Medicine Unit, University of Florence, Viale Pieraccini.
Alzheimer Dis Assoc Disord. 2019 Jan-Mar;33(1):42-46. doi: 10.1097/WAD.0000000000000282.
BACKGROUND/AIMS: Few longitudinal studies have explored the progression of cognitive and functional impairment of patients with primary progressive aphasia (PPA). The aims of the study were to describe the clinical, neuroimaging, and genetic features of a cohort of 68 PPA patients, and to outline the natural history of the disease.
A sample of 23 patients with the logopenic variant, 26 with the nonfluent/agrammatic variant, and 19 with the semantic variant was retrospectively collected and followed-up for a maximum of 6 years. Clinical-neuropsychological assessment, fluorodeoxyglucose positron emission tomographic imaging, and genetic analyses were acquired at baseline. Disease progression was evaluated in terms of language impairment, global cognitive decline, and functional dependency.
During follow-up, one third of subjects presented total language loss, and 20% severe functional dependency. Global cognitive decline after the first year (hazard ratio, 5.93; confidence interval, 1.63-21.56) and high schooling (hazard ratio, 0.07; confidence interval, 0.008-0.74) represented risk factors for functional impairment. The apolipoprotein E status was associated with the progression of cognitive decline. Positive family history for dementia was frequent and 3 genetic autosomal dominant mutations were identified.
There were no differences in the progression of PPA subtypes. Genetics plays an important role in disease onset and progression.
背景/目的： 很少有纵向研究探索原发性进行性失语症（PPA）患者认知和功能障碍的进展。本研究的目的是描述 68 例 PPA 患者的临床、神经影像学和遗传特征，并概述疾病的自然史。
回顾性收集了 23 例失读症变异型、26 例非流利/语法障碍变异型和 19 例语义变异型患者的样本，并对其进行了最长 6 年的随访。在基线时进行了临床神经心理学评估、氟脱氧葡萄糖正电子发射断层扫描成像和遗传分析。根据语言障碍、整体认知下降和功能依赖来评估疾病进展。
在随访期间，三分之一的患者出现了完全的语言丧失，20%的患者出现了严重的功能依赖。第一年以后的整体认知下降（风险比，5.93；置信区间，1.63-21.56）和高教育程度（风险比，0.07；置信区间，0.008-0.74）是功能障碍的危险因素。载脂蛋白 E 状态与认知衰退的进展有关。痴呆症的阳性家族史很常见，发现了 3 种常染色体显性遗传突变。
PPA 亚型的进展没有差异。遗传学在疾病的发病和进展中起着重要作用。
