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COL4A1 Gene Related Cerebra-retinal Angiopathy

2014-08-27 03:14:50 | BioPortfolio

Summary

This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.

Description

150 index patients (children or young adult) and 100 relatives will be prospectively recruited over three years according to eligibility criteria. Clinical, brain MRI-MRA and genetic testing (COL4A1 mutation screening) will be conducted for each included patient or asymptomatic relatives. 13 French investigating centres will be participating to the study.

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Conditions

Cerebra-retinal Angiopathy

Intervention

COL4A1 genetic testing

Location

Hôpital LARIBOISIERE Neurology Department
Paris
France
75010

Status

Recruiting

Source

Assistance Publique - Hôpitaux de Paris

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:14:50-0400

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A metalloflavoprotein enzyme involved the metabolism of VITAMIN A, this enzyme catalyzes the oxidation of RETINAL to RETINOIC ACID, using both NAD+ and FAD coenzymes. It also acts on both the 11-trans- and 13-cis-forms of RETINAL.

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