دورية أكاديمية
[Moyamoya disease: clinical, neuroradiological, neuropsychological and genetic perspective].
| العنوان: | [Moyamoya disease: clinical, neuroradiological, neuropsychological and genetic perspective]. |
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| عنوان ترانسليتريتد: | Enfermedad de moyamoya: aspectos clinicos, neurorradiologicos, neuropsicolologicos y geneticos. |
| المؤلفون: | Espert R; Universidad de Valencia, 46071 Valencia, Espana., Gadea M; Universidad de Valencia, 46071 Valencia, Espana., Alino M; Universidad de Valencia, 46071 Valencia, Espana., Oltra-Cucarella J; Universidad de Valencia, 46071 Valencia, Espana.; Hospital Santa Maria del Rosell, 30203 Cartagena, Espana., Perpina C; Universidad de Valencia, 46071 Valencia, Espana. |
| المصدر: | Revista de neurologia [Rev Neurol] 2018 Mar 01; Vol. 66 (S01), pp. S57-S64. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | Spanish; Castilian |
| بيانات الدورية: | Publisher: Revista De Neurologia Country of Publication: Spain NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Barcelona : Revista De Neurologia Original Publication: Barcelona [Centro de Orientacion Escolar? 1973?]- |
| مواضيع طبية MeSH: | Moyamoya Disease*/complications , Moyamoya Disease*/diagnostic imaging , Moyamoya Disease*/genetics , Moyamoya Disease*/psychology, Adenosine Triphosphatases/deficiency ; Adenosine Triphosphatases/genetics ; Animals ; Brain Ischemia/etiology ; Carrier Proteins/genetics ; Carrier Proteins/physiology ; Cerebral Angiography ; Cerebral Hemorrhage/etiology ; Cognition Disorders/etiology ; Collateral Circulation ; Disease Models, Animal ; Genetic Predisposition to Disease ; Humans ; Magnetic Resonance Angiography ; Mice ; Mice, Knockout ; Movement Disorders/etiology ; Neuroimaging ; Personality Disorders/etiology ; Ubiquitin-Protein Ligases/deficiency ; Ubiquitin-Protein Ligases/genetics ; Zebrafish Proteins/deficiency ; Zebrafish Proteins/genetics |
| مستخلص: | Introduction: 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. Aim: To conduct a review and update on MMD from a clinical, neuroradiological, neuropsychological and genetic perspective. Development: 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. Conclusions: 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. |
| فهرسة مساهمة: | Local Abstract: [Publisher, Spanish; Castilian] Enfermedad de moyamoya: aspectos clinicos, neurorradiologicos, neuropsicolologicos y geneticos. [Publisher, Spanish; Castilian] Introduccion. La enfermedad de moyamoya (EMM) es una enfermedad cerebrovascular oclusiva caracterizada por estenosis progresiva o la oclusion en la porcion terminal de las arterias carotidas internas bilaterales, que afecta tanto a niños como a adultos. Objetivo. Realizar una revision y actualizacion sobre la EMM desde una perspectiva clinica, neurorradiologica, neuropsicologica y genetica. Desarrollo. En esta patologia, que cursa con isquemia o hemorragia cerebral, se desarrolla una red vascular inusual compensatoria (vasos moyamoya) en la base del cerebro en forma de canales colaterales. La EMM puede cursar clinicamente con hemiparesia, disartria, afasia, cefalea, convulsiones, deficits visuales, sincopes o cambios en la personalidad. Neuropsicologicamente, y aun en ausencia de ictus evidentes, los pacientes suelen presentar afectacion de la atencion, memoria, conducta y funciones ejecutivas. La angiografia y la resonancia magnetica de alta resolucion han supuesto un avance neurorradiologico hacia una deteccion precoz de esta enfermedad. Recientemente se ha identificado el RING (really interesting new gene) RNF213, que se considera el factor genetico de riesgo mas importante conocido hasta ahora en la EMM. Conclusiones. La EMM es una patologia rara que afecta de forma predominante a los lobulos frontales. Los avances geneticos y neurorradiologicos, ademas de un perfil cognitivo, contribuyen a un diagnostico y tratamiento tempranos para mejorar la calidad de vida de estos pacientes. |
| المشرفين على المادة: | 0 (Carrier Proteins) 0 (Zebrafish Proteins) EC 2.3.2.27 (E3 ubiquitin-protein ligase rnf213-alpha, zebrafish) EC 2.3.2.27 (RNF213 protein, mouse) EC 2.3.2.27 (TRIM39 protein, human) EC 2.3.2.27 (Ubiquitin-Protein Ligases) EC 3.6.1.- (Adenosine Triphosphatases) |
| تواريخ الأحداث: | Date Created: 20180309 Date Completed: 20181231 Latest Revision: 20191210 |
| رمز التحديث: | 20231215 |
| PMID: | 29516454 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1576-6578 |
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