Increased Serum Levels of Nerve Growth Factor in von Recklinghausen's Disease

Fabricant, Robert; Todaro, George J.

doi:10.1001/archneur.1981.00510070035003

Cited by 55 publications

(20 citation statements)

References 16 publications

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“…Second, in the course of this analysis an apparently common, normal variation in DNA sequence in the intervening sequence of the P-NGF gene has been identified. This variation can be used to elucidate the role of this gene in other inherited diseases in which /B-NGF is thought to have a role-e.g., other congenital sensory neuropathies (2, 41) and neurofibromato-4216 Neurobiology: Breakefield et aLP sis (42,43,44). Third, it demonstrates one of the ways in which recombinant DNA technology can be used to understand the molecular basis of inherited diseases (45,46).…”

Section: Resultsmentioning

confidence: 99%

Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

Breakefield¹,

Orloff²,

Castiglione³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

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Section: Resultsmentioning

confidence: 99%

Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

Breakefield¹,

Orloff²,

Castiglione³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

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“…Patchefsky et al suggested that pulmonary fibrosis in NF-1 may be determined by increased deposition of collagen in the lung, causing a fibrotic environment [12]. Fabricant et al postulated a similar pathogenetic mechanism, attributing the cause of ILD to myofibroblast activation by increased nerve growth factor levels in NF-1 patients [17].…”

Section: Discussionmentioning

confidence: 99%

Bullous lung disease and neurofibromatosis type-1

Nardecchia

Perfetti

Castiglioni

et al. 2015

Monaldi Arch Chest Dis

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Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait. We report the case of a 16-year-old male non-smoker with NF-1, who presented with pneumothorax caused by ruptured lung bullae. The case of this young patient, successfully treated by video-assisted thoracoscopic resection of bullae, supports the concept that pulmonary alterations may be part of the NF-1 syndrome, rather than as an unrelated complication.

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“…Consistent with this suggestion, the pathological features of the pulmonary parenchymal lesions at autopsy or lung biopsy, reveal areas of normal lung alternating with patchy interstitial fibrosis, septal thickening and cellularity. Moreover, there is perhaps a fibrotic environment in these patients; FABRICANT and TODARO [21] found increased nerve growth factor in the serum of patients with NF. This factor directly activates fibroblasts, stimulating differentiation into more pro-fibrogenic myofibroblasts, a process which may contribute to the pathogenesis of lung fibrosis in NF [22].…”

Section: Neurofibromatosis-associated Lung Diseasementioning

confidence: 99%

Neurofibromatosis-associated lung disease: a case series and literature review

Zamora¹,

Collard²,

Wolters³

et al. 2006

Eur Respir J

138

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An association of neurofibromatosis with diffuse lung disease (NF-DLD) has been described, but its true prevalence and characteristics remain unclear. The objective of the present study was to define diffuse lung disease in patients with neurofibromatosis.A retrospective case series and literature review in a tertiary care academic medical centre is reported in which medical records, chest radiographs and high-resolution computed tomography (HRCT) scans were reviewed.A total of 55 adult patients with neurofibromatosis were identified, three of whom had NF-DLD. A literature review revealed 16 articles reporting 61 additional cases, yielding a total of 64 NF-DLD cases. The mean age of patients was 50 yrs. Males outnumbered females; most reported dyspnoea. Of the 16 subjects with documented smoking histories, 12 were ever-smokers. Eight patients had HRCT scan results demonstrating ground-glass opacities (37%), bibasilar reticular opacities (50%), bullae (50%), cysts (25%) and emphysema (25%); none had honeycombing. A group of 14 patients had surgical biopsy results that showed findings of interstitial fibrosis (100%) and interstitial inflammation (93%).In conclusion, neurofibromatosis with diffuse lung disease is a definable clinical entity, characterised by upper lobe cystic and bullous disease and lower lobe fibrosis. Its relationship to smoking remains unclear.

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Increased Serum Levels of Nerve Growth Factor in von Recklinghausen's Disease

Cited by 55 publications

References 16 publications

Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

Bullous lung disease and neurofibromatosis type-1

Neurofibromatosis-associated lung disease: a case series and literature review

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