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Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease

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. T...

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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
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cited_by cdi_FETCH-LOGICAL-c758t-f909c08cc14e96f9ed47937891f6f3bea56529d6b34478d9778e85a391fd10233
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creator 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
description 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
doi_str_mv 10.1371/journal.pone.0108982
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Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agriculture Science Database</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing &amp; Allied Health Premium</collection><collection>Advanced Technologies &amp; Aerospace Database</collection><collection>ProQuest Advanced Technologies &amp; Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials science collection</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gaig, Carles</au><au>Vilas, Dolores</au><au>Infante, Jon</au><au>Sierra, María</au><au>García-Gorostiaga, Inés</au><au>Buongiorno, Mariateresa</au><au>Ezquerra, Mario</au><au>Martí, Maria José</au><au>Valldeoriola, Francesc</au><au>Aguilar, Miquel</au><au>Calopa, Matilde</au><au>Hernandez-Vara, Jorge</au><au>Tolosa, Eduardo</au><au>Duda, John</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2014-10-17</date><risdate>2014</risdate><volume>9</volume><issue>10</issue><spage>e108982</spage><epage>e108982</epage><pages>e108982-e108982</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>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&lt;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. 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.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>25330404</pmid><doi>10.1371/journal.pone.0108982</doi><oa>free_for_read</oa></addata></record>
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identifier ISSN: 1932-6203
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issn 1932-6203
1932-6203
language eng
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source Open Access: PubMed Central; Publicly Available Content Database
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
title Nonmotor symptoms in LRRK2 G2019S associated Parkinson's disease
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