Journal ArticleDOI
Central neurofibromatosis with bilateral acoustic neuroma Genetic, clinical and biochemical distinctions from peripheral neurofibromatosis
TLDR
The central form of neurofibromatosis with bilateral acoustic neuroma is described in 130 cases from 9 kindreds personally studied and 15 reported kindreds and only the antigenic activity of nerve growth factor was increased.Abstract:
Neurofibromatosis includes the common “peripheral” form and a recently documented “central” form. We describe the central form in 130 cases from 9 kindreds personally studied and 15 reported kindreds. Central neurofibromatosis with bilateral acoustic neuroma is an autosomal dominant disorder beginning about 20 years of age, accompanied by mild skin changes. In three kindreds with central neurofibromatosis, we measured nerve growth factor in serum by radioimmunoassay and radioreceptor assay. Only the antigenic activity of nerve growth factor was increased. In contrast, in peripheral neurofibromatosis, only the functional activity of nerve growth factor has been reported increased. Central and peripheral forms of neurofibromatosis are closely related but discrete diseases which appear to have separate alterations in nerve growth factor activity.read more
Citations
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Journal ArticleDOI
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
David H. Gutmann,Arthur S. Aylsworth,John C. Carey,Bruce R. Korf,Joan Marks,Reed E. Pyeritz,Allan E. Rubenstein,David Viskochil +7 more
TL;DR: The diagnostic criteria for neurofibromatosis 1 and neurof fibromaatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders are determined.
Journal ArticleDOI
A Clinical Study of Type 2 Neurofibromatosis
TL;DR: The clinical features, age at onset of symptoms and survival of 150 patients with type 2 neurofibromatosis were studied and there are marked inter-family differences in disease severity and tumour susceptibility.
Journal ArticleDOI
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.
TL;DR: It is suggested that a common event underlies tumorigenesis in acoustic neuroma and meningioma, and this finding might provide a clue to the chromosomal location of the defective gene in bilateral acoustic neurofibromatosis, an auto-somal dominant disorder with the hallmark of bilateral acoustic neuromas.
Journal ArticleDOI
Neurofibromatosis type 2
Ashok R. Asthagiri,Dilys M. Parry,John A. Butman,H. Jeffrey Kim,Ekaterini Tsilou,Zhengping Zhuang,Russell R. Lonser +6 more
TL;DR: Optimum treatment is multidisciplinary because of the complexities associated with management of the multiple, progressive, and protean lesions associated with the disorder.
Journal ArticleDOI
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22
Guy A. Rouleau,Wladimir Wertelecki,Jonathan Haines,Wendy Hobbs,James A. Trofatter,Bernd R. Seizinger,Robert L. Martuza,Duane W. Superneau,P. M. Conneally,James F. Gusella +9 more
TL;DR: The genetic localization of the primary BANF defect strongly supports the concept that the disease locus encodes a 'tumour suppressor' gene, and should provide insights into the pathogenesis of acoustic neuromas and other nervous system tumours.
References
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Journal ArticleDOI
The nerve-growth factor.
TL;DR: Nerve growth factor is a signaling protein and growth factor implicated in a wide range of development and maintenance functions and has been implicated in immune function, stress response, nerve maintenance, and in neurodegenerative diseases.
Journal ArticleDOI
The nerve growth factor: purification as a 30,000-molecular-weight protein
TL;DR: The nerve growth factor protein was purified over 100-fold from adult mouse salivary glands by a gel filtration on Sephadex G-100 at pH 7.5 and the over-all recovery was about 45 per cent.
Journal ArticleDOI
Nerve growth factor receptors on human melanoma cells in culture
TL;DR: NGF can be shown to increase the survival, but not the division, of melanoma cells maintained in medium depleted of serum growth factors, similar to its effect on cultured sympathetic ganglion cells and on other cells derived from the neural crest.
Journal ArticleDOI
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