brain small vessel disease 1

A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inherita

A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.

Signs and symptoms

• Leukoencephalopathy
• Retinal arteriolar tortuosity
• Dilation of Virchow-Robin spaces
• Porencephalic cyst
• Cerebral hemorrhage
• Hemiparesis
• Elevated circulating creatine kinase activity
• Ischemic stroke
• Cortical dysplasia
• Hydrocephalus

Also known as: BSVD1; COL4A1-related brain small vessel disease with hemorrhage; COL4A1-related familial vascular leukoencephalopathy; COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome; autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy