brain small vessel disease 3

A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound h

A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11.

Signs and symptoms

• Leukoencephalopathy
• Cerebral calcification
• Cerebral atrophy
• Spastic tetraplegia
• Seizure
• Porencephalic cyst
• Global developmental delay
• Hypotonia
• Lacunar stroke
• Severe intellectual disability

Also known as: BSVD3