Abstract：
BACKGROUND: Up to 10 % of Parkinson\'s disease (PD) populations carry a genetic risk variant, which may not only increase one\'s chance of developing PD but also affect disease presentation and progression. We hypothesize motor impairment in genetic carriers of PD correlate to different patterns of microstructural changes over time.
METHODS: Data were accessed from the Parkinson\'s Progression Markers Initiative (PPMI) project. Connectometry analyses were performed for GBA1+ PD, LRRK2+ PD, and sporadic PD correlating white matter structural changes, as measured by quantitative anisotropy (QA), with motor impairment, as measured by MDS-UPDRS III.
RESULTS: There was a negative correlation between QA and MDS-UPDRS III in all 3 cohorts at 48 months. In GBA1+ PD (n = 12), the white matter tracts identified were cortical and subcortical, while in the LRRK2+ PD (n = 18) and sporadic PD (n = 45) cohorts white tracts identified were primarily subcortical and within the brainstem.
CONCLUSIONS: Our findings highlight the association between motor symptom progrerssion and structural connectivity in individuals with GBA1+ PD, LRRK2+ PD, and sporadic PD. Due to the small sample size, larger studies are needed in the future to confirm the findings.
METHODS: Data were accessed from the Parkinson\'s Progression Markers Initiative (PPMI) project. Connectometry analyses were performed for GBA1+ PD, LRRK2+ PD, and sporadic PD correlating white matter structural changes, as measured by quantitative anisotropy (QA), with motor impairment, as measured by MDS-UPDRS III.
RESULTS: There was a negative correlation between QA and MDS-UPDRS III in all 3 cohorts at 48 months. In GBA1+ PD (n = 12), the white matter tracts identified were cortical and subcortical, while in the LRRK2+ PD (n = 18) and sporadic PD (n = 45) cohorts white tracts identified were primarily subcortical and within the brainstem.
CONCLUSIONS: Our findings highlight the association between motor symptom progrerssion and structural connectivity in individuals with GBA1+ PD, LRRK2+ PD, and sporadic PD. Due to the small sample size, larger studies are needed in the future to confirm the findings.
摘要：
背景：多达10％的帕金森病（PD）人群携带遗传风险变异，这不仅可能增加一个人发展为PD的机会，而且还影响疾病的表现和进展。我们假设PD遗传携带者的运动障碍与随时间的不同微观结构变化模式相关。
方法：数据来自帕金森进展标志物倡议（PPMI）项目。对GBA1+PD进行了Connectometry分析，LRRK2+PD,和与白质结构变化相关的零星PD，如通过定量各向异性(QA)测量的，有运动障碍，通过MDS-UPDRSIII测量。
结果：在48个月的所有3个队列中，QA和MDS-UPDRSIII之间均呈负相关。在GBA1+PD(n=12)中，确定的白质束是皮质和皮质下，而在LRRK2PD（n=18）和散发性PD（n=45）队列中，确定的白色束主要是皮质下和脑干内。
结论：我们的研究结果强调了GBA1+PD患者运动症状进展与结构连通性之间的关联，LRRK2+PD,和零星的PD。由于样本量小,未来需要更大的研究来证实这些发现。
方法：数据来自帕金森进展标志物倡议（PPMI）项目。对GBA1+PD进行了Connectometry分析，LRRK2+PD,和与白质结构变化相关的零星PD，如通过定量各向异性(QA)测量的，有运动障碍，通过MDS-UPDRSIII测量。
结果：在48个月的所有3个队列中，QA和MDS-UPDRSIII之间均呈负相关。在GBA1+PD(n=12)中，确定的白质束是皮质和皮质下，而在LRRK2PD（n=18）和散发性PD（n=45）队列中，确定的白色束主要是皮质下和脑干内。
结论：我们的研究结果强调了GBA1+PD患者运动症状进展与结构连通性之间的关联，LRRK2+PD,和零星的PD。由于样本量小,未来需要更大的研究来证实这些发现。
