@article{37ae4ff0521146e0bf515b340fda5110,
title = "Age-Related Parkinsonian Signs in Microdeletion 22q11.2",
abstract = "Background: The recurrent hemizygous 22q11.2 deletion associated with 22q11.2 deletion syndrome has been identified as a genetic risk factor for early-onset PD. However, little is known about early motor signs in this condition. Objectives: We examined the presence, severity and possible factors associated with parkinsonism in adults with 22q11.2 deletion syndrome and without PD. Methods: We compared motor signs between 82 adults with 22q11.2 deletion syndrome and 25 healthy controls, using the MDS-UPDRS part III, and three-dimensional motion-tracker technology to quantify components of bradykinesia. Results: Median MDS-UPDRS part III total and bradykinesia subscores were significantly higher in 22q11.2 deletion syndrome (median age: 26 years; range, 17–65) than in controls (P = 0.000; P = 0.000, respectively). Age was a significant contributor to bradykinesia subscore (B = 0.06; P = 0.01) and to the electronic bradykinesia component, velocity (B = –0.02; P = 0.000); psychotic illness did not significantly impact these analyses. In 22q11.2 deletion syndrome, MDS-UPDRS–defined bradykinesia was present in 18.3%, rigidity in 14.6%, and rest tremor in 12.2%. Conclusions: Parkinsonian motor signs appear to be common and age related in 22q11.2 deletion syndrome. Longitudinal studies are needed to investigate possible symptom progression to PD.",
keywords = "2 deletion syndrome, 22q11, adults, aging, association, clinical-features, deletion, disease, disorder, motor abnormalities, parkinson's disease, parkinsonism, symptoms, wearable sensors, Parkinson's disease, ADULTS, SYMPTOMS, CLINICAL-FEATURES, DELETION, DISEASE, DISORDER, ASSOCIATION, MOTOR ABNORMALITIES",
author = "E. Boot and T.Q. Mentzel and L.D. Palmer and {van Harten}, P.N. and C. Marras and A.E. Lang and A.S. Bassett",
note = "Funding Information: The authors thank all participants and the families of the adults with 22q11.2DS for their participation, Marcos Sanches (Krembil Centre for Neuroinformatics, CAMH) for review and critique of the statistical analysis, and Tracy Heung (Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, CAMH), Radhika Sivanandan, and Fiona Fu (The Dalglish Family 22q Clinic), and (other) research assistants and students who assisted in the collection of data for this study. Funding Information: C.M. and A.E.L. receive grant support from the Michael J. Fox Foundation, the Canadian Institutes of Health Research (CIHR), and the Parkinson's Foundation. C.M. also receives grant support from the International Parkinson and Movement Disorder Society and the National Institutes of Health (NIH). She has served as a consultant for Acorda Therapeutics and has received honoraria for teaching from EMD Serono and for participating as a Steering Committee member from the Michael J. Fox Foundation. She has served on the advisory board for Denali Therapeutics. A.E.L. has served as a consultant for AbbVie, AFFiRis, Biogen, Janssen, Lilly, Lundbeck, Merck, Paladin, Roche, Sun Pharma, Theravance, and Corticobasal Degeneration Solutions. He has served on advisory boards for Jazz Pharma, PhotoPharmics, and Sunovion and received honoraria from Sun Pharma, AbbVie, and Sunovion. A.E.L. has also received grant support from Brain Canada, Corticobasal Degeneration Solutions, the Edmond J. Safra Philanthropic Foundation, the Ontario Brain Institute, Parkinson Canada, and W. Garfield Weston Foundation and royalties from Elsevier, Saunders, Wiley‐Blackwell, Johns Hopkins Press, and Cambridge University Press. A.S.B. holds the Dalglish Chair in 22q11.2 Deletion Syndrome and has received grant support from CIHR (MOP‐53216, MOP‐313331, and PJT‐148924), NIMH (5U01MH101723), and the University of Toronto McLaughlin Centre. Funding Information: This work was supported financially by the Physicians{\textquoteright} Services Incorporated Foundation (15‐15; to E.B.), the Canadian Institutes of Health Research (MOP 97,800 and 111238; to A.S.B.), the Dalglish Chair in 22q11.2 Deletion Syndrome, and the Dalglish Fellowship in 22q11.2 deletion syndrome awarded to E.B. Funding agencies: Publisher Copyright: {\textcopyright} 2020 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.",
year = "2020",
month = jul,
day = "1",
doi = "10.1002/mds.28080",
language = "English",
volume = "35",
pages = "1239--1245",
journal = "Movement Disorders",
issn = "0885-3185",
publisher = "Wiley",
number = "7",
}