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Report for Clinical Trial NCT01618383

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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

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.

NCT01618383 Parkinson's Disease
MeSH:Parkinson Disease

1 Interventions

Name: colonoscopy or rectosigmoidoscopy

Description: Usual procedure
Type: Other
Group Labels: 1

Colonic biopsies


Primary Outcomes

Measure: Presence of alpha-synuclein aggregates in colonic biopsies using immunohistochemistry

Time: 3 months

Secondary Outcomes

Measure: Analysis of intestinal permeability in biopsies using Ussing's chambers

Time: 3 months

Purpose: Diagnostic

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 G2019S

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 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 Parkinson's Disease Parkinson Disease null --- G2019S ---

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 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 Parkinson's Disease Parkinson Disease null --- G2019S --- --- G2019S ---



HPO Nodes