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Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities
Movement disorders, 2020-11, Vol.35 (11), p.2090-2095
Ramirez, Joel
Dilliott, Allison A.
Binns, Malcolm A.
Breen, David P.
Evans, Emily C.
Beaton, Derek
McLaughlin, Paula M.
Kwan, Donna
Holmes, Melissa F.
Ozzoude, Miracle
Scott, Christopher J.M.
Strother, Stephen C.
Symons, Sean
Swartz, Richard H.
Grimes, David
Jog, Mandar
Masellis, Mario
Black, Sandra E.
Joutel, Anne
Marras, Connie
Rogaeva, Ekaterina
Hegele, Robert A.
Lang, Anthony E.
2020
Volltextzugriff (PDF)
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Autor(en) / Beteiligte
Ramirez, Joel
Dilliott, Allison A.
Binns, Malcolm A.
Breen, David P.
Evans, Emily C.
Beaton, Derek
McLaughlin, Paula M.
Kwan, Donna
Holmes, Melissa F.
Ozzoude, Miracle
Scott, Christopher J.M.
Strother, Stephen C.
Symons, Sean
Swartz, Richard H.
Grimes, David
Jog, Mandar
Masellis, Mario
Black, Sandra E.
Joutel, Anne
Marras, Connie
Rogaeva, Ekaterina
Hegele, Robert A.
Lang, Anthony E.
Titel
Parkinson's Disease, NOTCH3 Genetic Variants, and White Matter Hyperintensities
Ist Teil von
Movement disorders, 2020-11, Vol.35 (11), p.2090-2095
Ort / Verlag
Hoboken, USA: John Wiley & Sons, Inc
Erscheinungsjahr
2020
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
Background White matter hyperintensities (WMH) on magnetic resonance imaging may influence clinical presentation in patients with Parkinson's disease (PD), although their significance and pathophysiological origins remain unresolved. Studies examining WMH have identified pathogenic variants in NOTCH3 as an underlying cause of inherited forms of cerebral small vessel disease. Methods We examined NOTCH3 variants, WMH volumes, and clinical correlates in 139 PD patients in the Ontario Neurodegenerative Disease Research Initiative cohort. Results We identified 13 PD patients (~9%) with rare (<1% of general population), nonsynonymous NOTCH3 variants. Bayesian linear modeling demonstrated a doubling of WMH between variant negative and positive patients (3.1 vs. 6.9 mL), with large effect sizes for periventricular WMH (d = 0.8) and lacunes (d = 1.2). Negative correlations were observed between WMH and global cognition (r = −0.2). Conclusion The NOTCH3 rare variants in PD may significantly contribute to increased WMH burden, which in turn may negatively influence cognition. © 2020 International Parkinson and Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.28171
Titel-ID: cdi_proquest_miscellaneous_2416263042
Format
–
Schlagworte
Bayes Theorem
,
Bayesian analysis
,
CADASIL
,
Cognition
,
Genetic diversity
,
Humans
,
Magnetic Resonance Imaging
,
Movement disorders
,
Neurodegenerative Diseases
,
NOTCH3
,
ONDRI
,
Ontario
,
Parkinson Disease - diagnostic imaging
,
Parkinson Disease - genetics
,
Parkinson's disease
,
Receptor, Notch3 - genetics
,
Substantia alba
,
Vascular diseases
,
White Matter - diagnostic imaging
,
white matter hyperintensities
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