Study of the Enteric Nervous System Using Colonic Biopsies in Parkinson Patients With LRRK2 Mutation

Nantes University Hospital19 enrolled

Overview

The clinical and pathological similarities between LRRK2 related parkinsonism and idiopathic Parkinson's disease (PD) indicate that monogenetic LRRK2 parkinsonism may be a paradigm for the development of Lewy bodies disease, and a careful look at discrepancies between these two conditions may provide insight into the pathogenesis of PD. The early involvement of the enteric nervous system (ENS) during PD led to theories that an as yet unidentified external agent entering the ENS causes PD . If lesions of the ENS are found in patients who present with a genetic form of parkinsonism would go against this notion, and thus provide insight to the pathophysiology of the disease.

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

Parkinson's Disease

Interventions

Eligibility

Sex: ALLMin age: 30 YearsMax age: 80 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Patients aged 30-80, both genders * Parkinson's disease patients * Parkinson's disease patients with G2019S mutations * Controls: patient at risk of colic cancer for whom a coloscopy is required

Outcomes

Primary Outcomes

Presence of alpha-synuclein aggregates in colonic biopsies using immunohistochemistry

Time frame: 3 months

Secondary Outcomes

Analysis of intestinal permeability in biopsies using Ussing's chambers