CADASIL angiography is typically normal; invasive angiography should be avoided due to rare reports of clinical worsening. Anterior temporal lobe white matter involvement on MRI is a strong indicator of CADASIL. If Notch3 testing is negative but suspicion remains high, skin biopsy showing granular deposits in vessel walls can confirm the diagnosis. Fabry disease diagnosis begins with alpha-galactosidase A enzyme activity measurement, followed by genetic testing if activity is low.

CADASIL differential diagnosis includes Binswanger disease, multiple sclerosis, embolic stroke, and MELAS.Genetic testing for CADASIL is highly sensitive and specific but expensive; skin biopsy has high specificity with variable sensitivity.If Notch3 testing is negative but suspicion remains, skin biopsy showing granular vascular deposits can confirm CADASIL.CADASIL angiography is typically normal; invasive angiography should be avoided due to risk of clinical worsening.CADASIL MRI: bilateral white matter lesions in external capsule and anterior temporal lobes; temporal lobe involvement is a strong indicator.No disease-specific treatment for CADASIL; management focuses on aggressive vascular risk factor control.Fabry disease: early-onset posterior circulation strokes, neuropathic pain, cardiac arrhythmias, angiokeratomas, renal failure.Fabry disease pathophysiology: alpha-galactosidase A deficiency leads to glycolipid accumulation damaging vessel walls, smooth muscle, and nerves.Fabry disease diagnosis: alpha-galactosidase A enzyme activity measurement, followed by genetic testing if low.Fabry disease inheritance: X-linked; males are more severely affected; females can be carriers with variable expression.