Artículos de revistas
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease
Fecha
2017Registro en:
Brain, Volumen 140, Issue 5, 2018, Pages 1371-1383
14602156
00068950
10.1093/brain/awx053
Autor
Butcher, Nancy J.
Marras, Connie
Pondal, Margarita
Rusjan, Pablo
Boot, Erik
Christopher, Leigh
Repetto, Gabriela M.
Fritsch, Rosemarie
Chow, Eva W.C.
Masellis, Mario
Strafella, Antonio P.
Lang, Anthony E.
Bassett, Anne S.
Institución
Resumen
© The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.The recurrent 22q11.2 deletion is a genetic risk factor for early-onset Parkinson's disease. Adults with the associated 22q11.2 deletion syndrome (22q11.2DS) may exhibit phenotypes that could help identify those at highest risk and reveal disease trajectories. We investigated clinical and neuroimaging features relevant to Parkinson's disease in 26 adults: 13 with 22q11.2DS at genetic risk of Parkinson's disease (mean age = 41.5 years, standard deviation = 9.7), 12 healthy age and sex-matched controls, and a 22q11.2DS patient with L-DOPA-responsive early-onset Parkinson's disease. Neuroimaging included transcranial sonography and positron emission tomography using 11C-dihydrotetrabenazine (11C-DTBZ), a radioligand that binds to the presynaptic vesicular monoamine transporter. The 22q11.2DS group without Parkinson's disease demonstrated significant motor and olfactory defic