Clinical Research Directory

The study will not involve any dedicated visits. Informed consent will be obtained from each patient, and neuroimaging examinations will be performed as part of routine clinical practice. Any subsequent assessments will be considered solely on the basis of the individual patient's clinical needs, as determined by the treating physician or specialist. Along with the MRI images, a case report form (CRF) will be completed, including the patient's demographic data, detailed genetic findings, and clinical and neuroradiological phenotype. The neuroradiological findings will then be correlated with each patient's genotype and clinical phenotype.