Department of Neurology, St Olavs University Hospital, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
Acta Neurol Scand. 2014 May;129(5):300-6. doi: 10.1111/ane.12172. Epub 2013 Aug 13.
The aim of the study was to examine the sense of smell in LRRK2 mutation carriers and in patients with sporadic PD (sPD).
A total of 343 individuals were included: 275 sPD of whom 90 were de novo patients with sPD, 17 LRRK2 PD, 36 healthy LRRK2 mutation carriers, and 15 healthy family members without mutation. All subjects underwent neurologic examination and olfactory sense testing with B-SIT (a 12-item test). Linear regression analysis was applied to build different models with B-SIT as dependent variable.
Sporadic PD had significantly lower scores in olfaction compared with LRRK2 PD (P < 0.001). B-SIT scores were lowest in medicated sPD, and higher scores were found in de novo patients. LRRK2 PD had similar sense of smell to healthy LRRK2 mutation carriers and to healthy family members without mutation when adjusting for age.
Hyposmia was pronounced already at time of diagnosis in the sPD cases but was not present in healthy LRRK2 mutation carriers and less pronounced in LRRK2 PD compared with sporadic cases. Smell testing may be a preclinical marker in sporadic PD but does not seem applicable in LRRK2 cases.
本研究旨在探究 LRRK2 突变携带者和散发性帕金森病（sPD）患者的嗅觉情况。
共纳入 343 名个体：275 名 sPD 患者，其中 90 名为 sPD 首发患者，17 名为 LRRK2 PD 患者，36 名为健康 LRRK2 突变携带者，15 名为无突变的健康家族成员。所有受试者均接受神经系统检查和嗅觉测试（B-SIT，共 12 项测试）。采用线性回归分析建立 B-SIT 为因变量的不同模型。
与 LRRK2 PD 相比，sPD 的嗅觉评分显著降低（P<0.001）。与健康 LRRK2 突变携带者和无突变的健康家族成员相比，LRRK2 PD 的嗅觉评分相似，但与接受药物治疗的 sPD 患者相比，LRRK2 PD 的嗅觉评分较高。
sPD 患者在发病时已表现出嗅觉减退，但健康 LRRK2 突变携带者和 LRRK2 PD 患者中未出现这种情况，且 LRRK2 PD 患者的嗅觉减退程度较 sPD 患者轻。嗅觉测试可能是 sPD 的一种临床前标志物，但似乎不适用于 LRRK2 病例。
