Management of CADASIL syndrome

Abstract

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary small-vessel disease. CADASIL is caused by mutations in the NOTCH3 gene on chromosome 19; its global incidence and prevalence are unknown, likely because of under-diagnosis. CADASIL is a multisystemic disease, but its main clinical manifestations are related to the involvement of the brain. Very few controlled studies have been specifically performed on therapeutic interventions for CADASIL and its clinical manifestations.

Areas covered: Evidence is reviewed about possible effects of controlling risk factors for the disease, and about treatment of most common clinical manifestations: migraine, TIA/stroke, psychiatric disturbances and epilepsy, cognitive impairment and dementia.

Expert opinion: Correction of risk factors, and in particular hypertension, seems to be mandatory for reducing risk of stroke. Antiplatelet agents in secondary prevention in CADASIL might be recommended for secondary but not for primary prevention. Antiepileptic drugs seem to be the best choice for prophylaxis of migraine and MA, when needed. Psychiatric symptoms should be treated with conventional drugs, after reaching correct clinical diagnosis. Treatment of cognitive impairment and dementia with cholinesterase inhibitors may be effective on executive functions, but no conclusive data are available about its usefulness.

Keywords::

• CADASIL
• epilepsy
• migraine
• migraine with aura
• stroke
• vascular dementia

Notes

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