title: Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.
abstract: The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardiac sympathetic denervation. In the present report, we have studied the involvement of the peripheral autonomic system in a patient with Gaucher disease-associated parkinsonism. Using colonic biopsies and quantitative 123I-MIBG scintigraphy respectively, we show that both Lewy pathology and cardiac denervation were present in this case of Gaucher-associated Parkinsonism. We discuss the consequence of these findings on the pathophysiology of the disease.
authors.affiliation: Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.
authors.forename: Thibaud
authors.initials: T
authors.lastname: Lebouvier
authors.affiliation: Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Clairembault
authors.affiliation: Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.
authors.forename: David
authors.initials: D
authors.lastname: Devos
authors.affiliation: Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France.
authors.forename: Amandine
authors.initials: A
authors.lastname: Pallardy
authors.affiliation: Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Coron
authors.affiliation: Inserm, U913, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.
authors.forename: Michel
authors.initials: M
authors.lastname: Neunlist
authors.affiliation: Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Derkinderen
mesh_terms: D001342:Autonomic Nervous System Diseases / Q000175:diagnosis*; D005776:Gaucher Disease / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000175:diagnosis*
keywords: MIBG scintigraphy; Parkinson's disease; alpha-synuclein; biopsies; enteric nervous system; gaucher disease