Mautner V F, Laute S, Schneider E, Pulst S M
Neurologische Abteilung, Allgemeines Krankenhaus Hamburg-Hamburg.
Nervenarzt. 1991 Jun;62(6):340-8.
Neurofibromatosis is one of the most frequent autosomal-dominant hereditary disorders. Neoplastic, dysplastic and dysraphic lesions characterize the disease from the viewpoint of a neurologist. Depression, suicide, emotional instability, learning disability and behavior disorder are important aspects for the neuropsychiatric evaluation. Treatment of the patients will be facilitated by following the diagnostic criteria and by an interdisciplinary approach to diagnosis. The gene-molecular differentiation of NF I and NF II provides a basis for a more profound understanding of the disease which allows for more than just the clinical description. Cloning of the gene of NF I will give the possibility of predictive diagnosis of NF I. At present an indirect prenatal diagnosis of the genetic disorder is possible by flanking markers of NF I.
神经纤维瘤病是最常见的常染色体显性遗传性疾病之一。从神经科医生的角度来看，肿瘤性、发育异常性和神经管闭合不全性病变是该疾病的特征。抑郁、自杀、情绪不稳定、学习障碍和行为障碍是神经精神评估的重要方面。遵循诊断标准并采用跨学科的诊断方法将有助于对患者进行治疗。NF I和NF II的基因分子分化为更深入地理解该疾病提供了基础，这不仅仅是临床描述。NF I基因的克隆将使NF I的预测性诊断成为可能。目前，通过NF I的侧翼标记物可以对这种遗传性疾病进行间接产前诊断。
