Conditions / Genetic
brain small vessel disease 4
info · Genetic
A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homoz
A brain small vessel disease characterized by schemic and/or hemorrhagic events in the brain that result in neurologic symptoms and deficits, progressive movement disorders, gait abnormalities, dysarthria, and cognitive decline that has_material_basis_in homozygous or compound heterozygous mutation in the NIT1 gene on chromosome 1q23.
Signs and symptoms
- Mild intellectual disability
- Cognitive impairment
- Hemiparesis
- Basal ganglia cysts
- Generalized-onset seizure
- Increased urinary sulfite level
- Lacunar stroke
- Schizophrenia
- Dilation of Virchow-Robin spaces
- Spasticity