Nonmotor Symptoms in LRRK2 G2019S Associated Parkinson%26apos;s Disease

作者：Gaig Carles; Vilas Dolores; Infante Jon; Sierra Maria; Garcia Gorostiaga Ines; Buongiorno Mariateresa; Ezquerra Mario; Jose Marti Maria; Valldeoriola Francesc; Aguilar Miquel; Calopa Matilde; Hernandez Vara Jorge; Tolosa Eduardo^*

来源：PLos One, 2014, 9(10): e108982.

DOI：10.1371/journal.pone.0108982

Background: Idiopathic Parkinson%26apos;s disease (IPD) and LRRK2-associated PD (LRRK2-PD) might be expected to differ clinically since the neuropathological substrate of LRRK2-PD is heterogeneous. The range and severity of extra-nigral nonmotor features associated with LRRK2 mutations is also not well-defined. %26lt;br%26gt;Objective: To evaluate the prevalence and time of onset of nonmotor symptoms (NMS) in LRRK2-PD patients. %26lt;br%26gt;Methods: The presence of hyposmia and of neuropsychiatric, dysautonomic and sleep disturbances was assessed in 33 LRRK2-G2019S-PD patients by standardized questionnaires and validated scales. Thirty-three IPD patients, matched for age, gender, duration of parkinsonism and disease severity and 33 healthy subjects were also evaluated. %26lt;br%26gt;Results: University of Pennsylvania Smell Identification Test (UPSIT) scores in LRRK2-G2019S-PD were higher than those in IPD (23.5 +/- 6.8 vs 18.4 +/- 6.0; p = 0.002), and hyposmia was less frequent in G2019S carriers than in IPD (39.4% vs 75.8%; p = 0.01). UPSIT scores were significantly higher in females than in males in LRRK2-PD patients (26.9 +/- 4.7 vs 19.4 +/- 6.8; p %26lt; 0.01). The frequency of sleep and neuropsychiatric disturbances and of dysautonomic symptoms in LRRK2-G2019S-PD was not significantly different from that in IPD. Hyposmia, depression, constipation and excessive daytime sleepiness, were reported to occur before the onset of classical motor symptoms in more than 40% of LRRK2-PD patients in whom these symptoms were present at the time of examination. %26lt;br%26gt;Conclusion: Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G2019S-PD as in IPD but smell loss was less frequent in LRRK2-PD. Like in IPD, disturbances such as hyposmia, depression, constipation and excessive daytime sleepiness may antedate the onset of classical motor symptoms in LRRK2-G2019S-PD.

• 出版日期2014-10-17