Affiliations: Inserm, U913, Nantes, France | Inserm, CIC-04, Nantes, France | University Nantes, Nantes, France | CHU Nantes, Department of Neurology, Nantes, France | Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France | CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France
Note: [] Correspondence to: Pascal Derkinderen, Inserm U913, 1 place Alexis Ricordeau, 44093 Nantes, France. Tel.: +33 0 240087924; Fax: +33 0 240087506; Emails: derkinderenp@yahoo.fr; pascal.derkinderen@chu-nantes.fr
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.
