Conditions / Genetic
autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2
info · Genetic
A CADASIL characterized by alopecia, spondylosis, and progressive motor dysfunction and dementia. Onset is usually in the second or third decade that has_material_basis_in homozygous or compound heterozygous mutation in the HTRA1 gene on chromosome 10q26.
Signs and symptoms
- Pseudobulbar signs
- Dysmetria
- Urinary incontinence
- Gait apraxia
- Aphasia
- Brain atrophy
- Carotid artery stenosis
- Hallucinations
- Anxiety
- Diffuse white matter abnormalities