(1) Description of clinical and cranial MRI features in the original Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy (PADMAL) family and correlation with the segregation analysis of the causative collagen 4A1 gene (COL4A1) variant. The gene discussed is COL4A1; the disease is microangiopathy and leukoencephalopathy, pontine, autosomal dominant.