Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic underpinnings of human disease. In this article, we briefly review the role and findings of GWAS in common neurological diseases, including Stroke, Alzheimer's disease, Parkinson's disease, epilepsy, multiple sclerosis, migraine, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, restless leg...

Neurofibromatosis-1 (NF-1) is an autosomal dominant neurocutaneous syndrome with incomplete penetrance and variable phenotypic expressivity. Although it may affect any system of the body, disease remains generally innocuous. NF-1 has been commonly linked to neurological symptoms, including headaches, seizures, cognitive deficits, learning disabilities, others. While optic glioma most common CNS...

Moyamoya disease is a cerebrovascular disorder with unknown cause characterized by the occlusion of the bilateral internal carotid arteries (ICA) and proximal segments of ICA.1,2 On the other hand, moyamoya syndrome (MMS) is a rare form of this condition with underlying several pathologies including hematologic disorders, congenital syndromes, vascular malformations or vasculitis after irradiat...

Moyamoya disease is an idiopathic vascular disorder of the intracranial arteries. Ring finger 213 (RNF213) was previously identified as the strongest susceptibility gene for moyamoya disease in East Asian people by a genome-wide linkage analysis and exome analysis. The coding variant p.R4810K in RNF213 was strongly associated with moyamoya disease in the Japanese (odds ratio: 338.94, p = 1.05 ×...

PATIENT Male, 42 FINAL DIAGNOSIS: Moyamoya disease (MMD) Symptoms: Aphasia • concentration difficulty • dysarthria • personality change MEDICATION - Clinical Procedure: - Specialty: Radiology. OBJECTIVE Rare disease. BACKGROUND Moyamoya disease (MMD) was first described in 1957 as "hypoplasia of the bilateral internal carotid arteries." The characteristic appearance of the associated netw...

Introduction Moyamoya disease is a rare cerebrovascular occlusive disease of unknown etiology, characterized by stenosis or occlusion of both internal carotid arteries (ICAs) at the supraclinoid portion and an abnormal vascular network (moyamoya vessels)(1). 3-T MR angiography clearly shows moyamoya vessels at the base of the brain (2). Gadolinium-enhanced MRI depicts dilated pial vessels (ivy ...

The accessory middle cerebral artery can provide collateral blood supply in moyamoya disease. We report a case of unilateral moyamoya disease which demonstrates the anatomy of the right accessory middle cerebral artery and a ruptured peripheral aneurysm on the artery. Our patient was a 56-year-old woman who initially suffered from headache and lethargy. Right caudate nucleus hemorrhage with int...