COL4A1 Gene Related Cerebra-retinal Angiopathy

COL4A1 Gene Related Cerebra-retinal Angiopathy : Clinical Spectrum From Children to Adult, Mutational Spectrum and Application to Routine Management of Affected Patients : a Prospective Cohort Study

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

150 index patients (children or young adult) will be prospectively recruited over three years according to eligibility criteria. Relatives will be also recruited.

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.

Inclusion Criteria:

Inclusion criteria for the index patient :

• Children and young adult (< 65 years)
• Intracranial hemorrhage of unknown etiology
• leukoencephalopathy
• Any associated signs (including retinal arteriolar tortuosity, intracranial aneurysm, porencephaly, Infantile Cerebral Palsy, juvenile cataract)

Exclusion criteria:

(for the index patient)

• Hypertension
• Diabetes
• Other (than COL4A1) genetic small vessel diseases of the brain