Conditions / Genetic
brain small vessel disease 6 with leukoencephalopathy
info · Genetic
A brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that has_material_basis_in heterozygous mutation in the CTSA gene
A brain small vessel disease characterized by central nervous system manifestations, including migraine, stroke, transient movement disorders, gait disturbance, and progressive cognitive decline that has_material_basis_in heterozygous mutation in the CTSA gene on chromosome 20q13.
Signs and symptoms
- Impaired vibration sensation in the lower limbs
- Hearing impairment
- Delayed brainstem auditory evoked response conduction time
- Orthostatic hypotension
- Dysmetria
- Gait ataxia
- Deep cerebral white matter hyperintensities
- Tinnitus
- Impaired executive functioning
- Depression