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J Parkinsons Dis. 2014;4(1):29-32. doi: 10.3233/JPD-130333.

Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism.

Author information

1
Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Department of Neurology, Nantes, France.
2
Nuclear Medicine Department, René Gauducheau Cancer Center, Boulevard Jacques Monod, Saint Herblain, France.
3
Inserm, U913, Nantes, France Inserm, CIC-04, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.
4
Inserm, U913, Nantes, France University Nantes, Nantes, France CHU Nantes, Institut des Maladies de l'Appareil Digestif, Nantes, France.

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.

KEYWORDS:

MIBG scintigraphy; Parkinson's disease; alpha-synuclein; biopsies; enteric nervous system; gaucher disease

PMID:
24398657
DOI:
10.3233/JPD-130333
[Indexed for MEDLINE]
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