机构：[1]Parkinson’s Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain[2]Neurology Unit, Hospital General de Granollers, Universitat Internacional de Catalunya, Granollers, Spain[3]Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USA[4]Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, USA[5]Departments of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, Beijing, China神经内科首都医科大学宣武医院[6]Parkinson’s Disease Research, Education and Clinical Center, Michael J. Crescenz VA Medical Center and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA[7]The Michael J. Fox Foundation for Parkinson’s Research, New York, New York, USA[8]Laboratory of Neurodegenerative Disorders, Department of Neurology, Hospital Clinic of Barcelona, Institutd’InvestigacionsBiomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, Spain[9]Institute for Neurodegenerative Disorders and Molecular NeuroImaging, New Haven, Connecticut, USA[10]Department of Nuclear Medicine, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Barcelona, Spain[11]Toronto Western Hospital Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson’s Disease, University of Toronto, Toronto, Ontario, Canada[12]Department of Neurology, Movement Disorders Unit. Hospital Universitario Donostia. Biodonostia Research Institute, Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), San Sebastian, Guipuzcoa, Spain[13]Department of Neurology, Mount Sinai Beth Israel Medical Center and Icahn School of Medicine at Mount Sinai, New York, New York, USA[14]Department of Neurology, Norwegian University of Science and Technology, Trondheim, Norway
Background: Asymptomatic, nonmanifesting carriers of leucine-rich repeat kinase 2 mutations are at increased risk of developing PD. Clinical and neuroimaging features may be associated with gene carriage and/or may demarcate individuals at greater risk for phenoconversion to PD. Objectives: To investigate clinical and dopamine transporter single-photon emission computed tomography imaging characteristics of leucine-rich repeat kinase 2 asymptomatic carriers. Methods: A total of 342 carriers' and 259 noncarriers' relatives of G2019S leucine-rich repeat kinase 2/PD patients and 39 carriers' and 31 noncarriers' relatives of R1441G leucine-rich repeat kinase 2/PD patients were evaluated. Motor and nonmotor symptoms were assessed using specific scales and questionnaires. Neuroimaging quantitative data were obtained in 81 carriers and compared with 41 noncarriers. Results: G2019S carriers scored higher in motor scores and had lower radioligand uptake compared to noncarriers, but no differences in nonmotor symptoms scores were observed. R1441G carriers scored higher in motor scores, had lower radioligand uptake, and had higher scores in depression, dysautonomia, and Rapid Eye Movements Sleep Behavior Disorder Screening Questionnaire scores, but had better cognition scores than noncarriers. Among G2019S carriers, a group with "mild motor signs" was identified, and was significantly older, with worse olfaction and lower radioligand uptake. Conclusions: G2019S and R1441G carriers differ from their noncarriers' relatives in higher motor scores and slightly lower radioligand uptake. Nonmotor symptoms were mild, and different nonmotor profiles were observed in G2019S carriers compared to R1441G carriers. A group of G2019S carriers with known prodromal features was identified. Longitudinal studies are required to determine whether such individuals are at short-term risk of developing overt parkinsonism. (C) 2017 International Parkinson and Movement Disorder Society
基金：
the Michael J. Fox Foundation for Parkinson’s Research.
第一作者机构：[1]Parkinson’s Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic de Barcelona, Universitat de Barcelona, Institut d’Investigacions Biomediques August Pi I Sunyer (IDIBAPS), Centro de Investigacion Biomedica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain[2]Neurology Unit, Hospital General de Granollers, Universitat Internacional de Catalunya, Granollers, Spain
通讯作者：
通讯机构：[*1]Parkinson’s disease and Movement Disorders Unit, Neurology Service, Hospital Cll?nic de Barcelona, C/ Villarroel 170, 08036 Barcelona, Spain
推荐引用方式(GB/T 7714)：
Claustre Pont-Sunyer,Eduardo Tolosa,Chelsea Caspell-Garcia,et al.The Prodromal Phase of Leucine-Rich Repeat Kinase 2-Associated Parkinson Disease: Clinical and Imaging Studies[J].MOVEMENT DISORDERS.2017,32(5):726-738.doi:10.1002/mds.26964.
APA：
Claustre Pont-Sunyer,Eduardo Tolosa,Chelsea Caspell-Garcia,Christopher Coffey,Roy N. Alcalay...&Bjorg Waro.(2017).The Prodromal Phase of Leucine-Rich Repeat Kinase 2-Associated Parkinson Disease: Clinical and Imaging Studies.MOVEMENT DISORDERS,32,(5)
MLA：
Claustre Pont-Sunyer,et al."The Prodromal Phase of Leucine-Rich Repeat Kinase 2-Associated Parkinson Disease: Clinical and Imaging Studies".MOVEMENT DISORDERS 32..5(2017):726-738
医学