CADASIL
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited small-vessel arteriopathy that presents as a familial syndrome of migraine, subcortical strokes, mood disorder, and early dementia, with subcortical infarcts and white matter disease on MRI. There is no disease-specific therapy; management is aspirin and blood pressure control for stroke prevention, nonvasoconstrictive migraine treatment with triptans avoided, and treatment of depression.
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What this article covers
- Overview
Definition: CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an inherited arteriopathy of the small cerebral vessels that produces recurrent…
- Epidemiology
Rare: CADASIL is one of the rarer causes of vascular dementia, alongside cerebral vasculitis.
- Risk factors
Affected parent: autosomal dominant inheritance gives each child of an affected parent a 50% chance of inheriting the disease.
- Pathophysiology
Inherited small-vessel arteriopathy: the dominantly inherited disease of small cerebral arteries injures the deep penetrating vessels, producing small subcortical (lacunar) infarcts in the deep white matter, basal ganglia, and brainstem.
- Clinical features
Familial tetrad: migraine, subcortical strokes, mood disorder, and early dementia in the patient and in first-degree relatives; recognizing this pattern is what raises the diagnosis.
- Differential diagnosis
Multiple sclerosis: relapsing deficits in a young adult with periventricular, juxtacortical, and infratentorial lesions, CSF oligoclonal bands in nearly 90%, and no stroke or family history of early dementia.
- Diagnosis
Diagnosis is established by the familial syndrome plus MRI: migraine, subcortical strokes, mood disorder, and early dementia in a family with autosomal dominant transmission, together with MRI…
- Management
First, treat any acute ischemic stroke on the standard acute stroke pathway: noncontrast head CT to exclude hemorrhage, then reperfusion decisions per the stroke protocol.
- Complications
Recurrent subcortical stroke: the main driver of disability and stepwise decline.
- Prognosis
Progressive disability is expected: each new subcortical infarct adds to the deficit, and no intervention reverses established vascular cognitive impairment.
- Prevention
Blood pressure below 130/80 mm Hg, with systolic below 130 mm Hg after any small subcortical infarct.
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- Lacunar stroke
Small subcortical infarct, under 1.5 cm, from occlusion of a single penetrating artery, most often caused by hypertensive lipohyalinosis, producing one of five classic pure motor, pure sensory, ataxic hemiparesis, dysarthria-clumsy hand, or mixed sensorimotor syndromes without cortical signs, diagnosed by MRI and managed with the standard acute stroke pathway plus aggressive antiplatelet, statin, and blood pressure secondary prevention.
- Vascular dementia
Dementia caused by cerebrovascular disease, presenting with a stepwise or abrupt decline in executive function and processing speed rather than the gradual memory loss of Alzheimer disease. Diagnosis requires evidence of cerebrovascular disease on imaging plus a temporally related or stepwise cognitive course; management is aggressive vascular risk factor control, since no drug reverses established vascular injury.
- Migraine headache
Migraine is a primary episodic headache disorder diagnosed by ICHD-3 clinical criteria (recurrent attacks, 4-72 hours, pulsatile/unilateral pain with nausea or photophobia/phonophobia). First-line acute treatment is an NSAID or oral triptan started early in the attack; prevention with a beta-blocker, topiramate, or CGRP-targeted therapy is added once attacks are frequent or disabling.
- Multiple sclerosis
Multiple sclerosis is an autoimmune, demyelinating CNS disorder causing optic neuritis, myelitis, and brainstem/cerebellar syndromes separated in space and time. Diagnosis uses the McDonald MRI-based criteria; acute relapses are treated with high-dose glucocorticoids, and disease-modifying therapy (interferon beta, glatiramer, or a higher-efficacy agent such as ocrelizumab or natalizumab) is started early to prevent relapse and disability accumulation.
- Ischemic stroke
Ischemic stroke is sudden focal neurologic deficit from arterial occlusion confirmed by infarction on neuroimaging. Diagnosis relies on urgent noncontrast head CT to exclude hemorrhage; treatment is IV alteplase within 4.5 hours and mechanical thrombectomy for large-vessel occlusion within an extended window, followed by antiplatelet therapy and risk-factor control.
- Cerebral amyloid angiopathy
Cerebral amyloid angiopathy is deposition of amyloid beta in the walls of small and medium-sized cortical and leptomeningeal arteries, making superficial vessels fragile; it is the most common cause of lobar intracerebral hemorrhage in older adults and also causes cortical microbleeds, superficial siderosis, and vascular dementia. Acute hemorrhage is managed like any intracerebral hemorrhage, and long-term care centers on blood pressure control and avoiding anticoagulation because recurrence risk is high.