Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Moyamoya disease is a rare neurological condition that affects children and adults of all ages. It is characterized by chronic, progressive stenosis of the circle of Willis that ultimately leads to the development of extensive collateral vessels. Presenting symptoms are usually due to cerebral ischemia or hemorrhage. The Japanese term moyamoya (meaning puffy or obscure) was coined to describe the characteristic 'smoke in the air' appearance of these vessels on cerebral angiography. Moyamoya has the highest recorded incidence in Japan (0.28 per 100,000). In the west it is an extremely rare condition with an overall incidence of (0.086 per 100,000) in the Western United States. Etiology for the most part is unknown; however, genetic susceptibility related to RNF213 gene on chromosome 17q25.3 has been suggested. Moyamoya is being diagnosed more frequently in all races with varying clinical manifestations. Moyamoya disease is a rare progressive neurologic condition characterized by occlusion of the cerebral circulation with extensive collaterals recruitment in children and adults. Distinguished radiological findings confirm the diagnosis. Early recognition and swift institution of therapy is vital in order to minimize neurological deficits. We present the case of a 19-year-old African American female who presented with left-sided parastheia, weakness, and headache for 2 days duration.
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PMID:'Smoke in the air': a rare cerebrovascular cause of neurological signs and symptoms in a young adult. 2609 61

Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by occlusion of bilateral internal carotid and intracerebral arteries with the compensatory growth of fragile small vessels. MMD patients develop recurrent infarctions in the basal ganglia and subcortical regions. Symptoms include transient ischemic attack or stroke, seizures, and headaches, which may occur suddenly or in a stepwise progression. Mutations in Ring Finger Protein 213 (RNF213), a Zinc ring finger protein, have been identified in some MMD patients but the etiology of MMD is still largely unknown. To gain insight into the pathophysiology of MMD, we characterized the impact of the RNF213 mutations on plasma protein and RNA profiles. Isobaric tags for relative and absolute quantitation and proximity extension assay were used to characterize the plasma proteome. Next generation sequencing-based small RNAseq was used to analyze the cell-free small RNAs in whole plasma and RNA encapsulated in extracellular vesicles. The changes of miRNAs and proteins identified are associated with signaling processes including angiogenesis and immune activities which may reflect the pathology and progression of MMD.
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PMID:The Impact of Moyamoya Disease and RNF213 Mutations on the Spectrum of Plasma Protein and MicroRNA. 3165 21

Ring finger protein (RNF) 213 is known as a susceptibility gene for moyamoya disease (MMD), which is characterized by bilateral carotid folk stenosis. Cerebral angiopathy after viral infection has been known to present angiographical appearance resembling MMD, however its pathogenesis and genetic background are not well known. We report a case of reversible cerebral angiopathy after viral infection in a pediatric patient with genetic variant of RNF213 mutation. The patient had developed a severe headache after hand, foot, and mouth disease. Magnetic resonance imaging and magnetic resonance angiography (MRA) performed 2-3 weeks after disease onset revealed bilateral carotid folk stenosis and an old cerebral infarction in the left putamen. The patient's headache spontaneously resolved and the follow-up MRA showed a complete spontaneous resolution of the arterial stenosis after 9 months. We were able to determine genetic predisposition to angiopathy by identifying the RNF213 c.14576G>A (rs112735431, p.R4859K) mutation. Based on the present case, we hypothesize that an RNF213 variant might play an important role for the onset of postviral cerebral angiopathy.
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PMID:Reversible Cerebral Angiopathy after Viral Infection in a Pediatric Patient with Genetic Variant of RNF213. 3181 81

A 3-year-old girl was admitted to our hospital with symptoms including headache, nausea, and vomiting. Head CT scan showed subarachnoid hemorrhage in the right carotid cistern. Digital subtraction angiography revealed right internal caortid artery(ICA)malformation at the C1 segment with collateral plexiform arterial network. The right ICA branched into posterior communicating artery and anterior choroidal artery(AChoA)and the ICA was decreased in caliber. The distal portion of the C1 segment of the ICA continued to the collateral plexiform arterial network, forming a saccular aneurysm. The plexiform arterial network connected to the right AChoA and the anterior communicating artery and continued to the distal portion of the right M1 segment. Right cervical carotid artery was normal. There was no transdural collateral flow from the right external carotid artery. Genetic analysis of a variant of RING finger protein 213 was negative. We diagnosed this patient with C1 dysplasia. We performed coil embolization for the aneurysm. The patient was discharged without any neurological deficit. Four months after the surgery, recurrence of the aneurysm was observed. We suspected that the aneurysm was formed due to hemodynamic mechanism and vulnerability of the collateral plexiform arterial network.
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PMID:[A Case of Pediatric C1 Dysplasia with Ruptured Aneurysm in Collateral Plexiform Arterial Network]. 3187 47