Sampedro Frederic, Marín-Lahoz Juan, Martínez-Horta Saul, Pagonabarraga Javier, Kulisevsky Jaime
Movement Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Biomedical Research Institute (IIB-Sant Pau), Barcelona, Spain.
Front Neurol. 2018 May 30;9:394. doi: 10.3389/fneur.2018.00394. eCollection 2018.
The MAPT H1 haplotype has been identified as a predictor of cognitive decline in Parkinson's disease (PD). However, its underlying pathological mechanisms have not been fully established. In this work, using a cohort of 120 PD patients with preserved cognition from the Parkinson's Progression Markers Initiative (PPMI) database, we found that patients who were homozygous for MAPT H1 had less gray matter volume (GMV) and greater 1-year GMV loss than patients without this genetic profile. Importantly, these changes were associated with a longitudinal worsening of cognitive indicators. Our findings suggest that early GMV loss in MAPT H1H1 PD patients increases their risk to develop cognitive decline.
微管相关蛋白tau（MAPT）H1单倍型已被确定为帕金森病（PD）认知功能衰退的一个预测指标。然而，其潜在的病理机制尚未完全明确。在本研究中，我们使用来自帕金森病进展标志物计划（PPMI）数据库的120名认知功能保留的PD患者队列，发现MAPT H1纯合子患者的灰质体积（GMV）比无此基因特征的患者更少，且1年内GMV损失更大。重要的是，这些变化与认知指标的纵向恶化相关。我们的研究结果表明，MAPT H1H1型PD患者早期的GMV损失增加了其发生认知衰退的风险。
