Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease

• Published in: PloS one 2014-10, Vol.9 (10), p.e108982-e108982
• Main Authors: Gaig, Carles, Vilas, Dolores, Infante, Jon, Sierra, María, García-Gorostiaga, Inés, Buongiorno, Mariateresa, Ezquerra, Mario, Martí, Maria José, Valldeoriola, Francesc, Aguilar, Miquel, Calopa, Matilde, Hernandez-Vara, Jorge, Tolosa, Eduardo
• Format: Article
• Language: English
• Subjects: Aged; Basal ganglia; Brain diseases; Brain research; Case-Control Studies; Central nervous system diseases; Constipation; Constipation - complications; Constipation - diagnosis; Daytime; Dementia; Depression (Mood disorder); Depression - complications; Depression - diagnosis; Disturbances; Family medical history; Female; Females; Gender; Hospitals; Humans; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; LRRK2 protein; Male; Males; Medicine and Health Sciences; Mental depression; Middle Aged; Movement disorders; Mutation; Mutation, Missense; Neurology; Neuropathology; Olfaction Disorders - complications; Olfaction Disorders - diagnosis; Parkinson Disease - complications; Parkinson Disease - diagnosis; Parkinson Disease - genetics; Parkinson's disease; Pathology; Patients; Protein-Serine-Threonine Kinases - genetics; Psychiatry; Sex differences; Sex Factors; Sleep; Sleep and wakefulness; Sleep disorders; Sleep Wake Disorders - complications; Sleep Wake Disorders - diagnosis; Sleepiness; Smell; Substantia nigra; Substrates
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0108982

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