[Moyamoya disease: clinical, neuroradiological, neuropsychological and genetic perspective]

Moyamoya disease (MMD) is an occlusive cerebrovascular disease characterized by progressive stenosis or occlusion in the terminal portion of the bilateral internal carotid arteries, affecting both children and adults.

To conduct a review and update on MMD from a clinical, neuroradiological, neuropsychological and genetic perspective.

In this pathology, which occurs with ischemia or cerebral hemorrhage, an unusual compensatory vascular network (moyamoya vessels) develops at the base of the brain in the form of collateral channels. MMD can present clinically with hemiparesis, dysarthria, aphasia, headache, seizures, visual deficits, syncopes or changes in personality. At the neuropsychological level, and even in the absence of obvious strokes, patients usually present impairment of attention, memory, behavior and executive functions. High resolution angiography and magnetic resonance imaging have been a neuroradiological advance towards an early detection of this disease. At the genetic level, the RING (really interesting new gene) RNF213 has recently been identified, and it is considered the most important genetic risk factor known up to now in the MMD.

MMD is a rare pathology that predominantly affects the frontal lobes. The genetic and neuroradiological advances, in addition to a cognitive profile, contribute to early diagnosis and treatment to improve the quality of life of these patients.