@article{10902/5486,
year = {2014},
month = {10},
url = {http://hdl.handle.net/10902/5486},
abstract = {BACKGROUND: 

Idiopathic Parkinson'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.

OBJECTIVE: 

To evaluate the prevalence and time of onset of nonmotor symptoms (NMS) in LRRK2-PD patients.

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.

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<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.

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.},
publisher = {Public Library of Science},
publisher = {PLoS One. 2014 Oct 17;9(10):e108982. eCollection 2014},
title = {Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease},
author = {Gaig, Carles and Vilas, Dolores and Infante Ceberio, Jon and Sierra Peña, María and García Gorostiaga, Inés and Buongiorno, Mariateresa and Ezquerra, Mario and Martí, María José and Valldeoriola, Francesc and Aguilar Barbera, Miquel and Calopa i Garriga, Matilde and Hernández Vara, Jorge and Tolosa, Eduardo},
}