Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1

Rosser, Tena; Vézina, Gilbert; Packer, Roger J.

doi:10.1212/01.wnl.0000150544.00016.69

Cited by 247 publications

(189 citation statements)

References 8 publications

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“…The majority of recent studies examining Nf1 haploinsufficiency have focused on the role of NF1 in modulating the tumor microenvironment of plexiform neurofibromas and optic gliomas (4 -6,31 -36). However, both clinical data from NF1 patients and experimental studies in Nf1þ/2 mice support the hypothesis that haploinsufficiency of NF1 (Nf1) results in a range of non-malignant phenotypes, including cerebrovascular disease (40), renal vascular hypertension (41 -43) and osseous abnormalities (10,13 -15,17,44), suggesting that haploinsufficient NF1 contributes to pathogenesis in multiple lineages. Our present study sought to understand the role of haploinsufficiency of NF1 (Nf1) in disrupting normal MSPC differentiation.…”

Section: Discussionmentioning

confidence: 83%

“…Although CFU-C cells were elevated in the Nmp4-KO mice, this only approached significance, and there was no difference in the levels of CFU-M cells between the genotypes. The precise lineage of the osteoclast and its relationship to other hematopoietic cells is controversial; however, there are a number of studies supporting the hypothesis that the osteoclast lineage branches to terminal differentiation via the CFU-GM cells before further passage toward the monocyte/macrophage lineage [39,40]. No differences between WT and Nmp4-KO mice in CD8 + T cells were detected in the PBL (average -SD, number of mice/ experimental group 11-14; statistical differences were determined using a 2-way ANOVA).…”

Section: Nmp4 and Pthmentioning

confidence: 99%

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Maximizing PTH Anabolic Osteoporosis Therapy

Bidwell¹

2014

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Public reporting burden for this collection of information is estimated to average 1 hour per response, including the time for reviewing instructions, searching existing data sources, gathering and maintaining the data needed, and completing and reviewing this collection of information. Send comments regarding this burden estimate or any other aspect of this collection of information, including suggestions for reducing this burden to Department of Defense, Washington Headquarters Services, Directorate for Information 5f. WORK UNIT NUMBER PERFORMING ORGANIZATION NAME(S) AND ADDRESS(ES) 8. PERFORMING ORGANIZATION REPORT NUMBER DIANA UNIVERSITY 980 INDIANA AVE RM 2232 INDIANAPOLIS IN 46202-5130 SPONSORING / MONITORING AGENCY NAME(S) AND ADDRESS(ES) 10. SPONSOR/MONITOR'S ACRONYM(S) U.S. Army Medical Research and Materiel Command Fort Detrick, Maryland 21702-5012 SPONSOR/MONITOR'S REPORT NUMBER(S) DISTRIBUTION / AVAILABILITY STATEMENTApproved for Public Release; Distribution Unlimited SUPPLEMENTARY NOTES ABSTRACTThe purpose of this study is to test the efficacy of parathyroid hormone (PTH) mono-therapy and PTH+ anti-resportive combination therapies on Nmp4-knockout (KO) and wild type (WT) mice. The scope of the research comprises the following specific aims: (i & ii) to determine the impact of Nmp4 on the efficacy of PTH mono-and combination therapies with various anti-resorptives in ovariectomized (ovx) mice; (iii) to determine the cell type-specific contributions to the enhanced response of the Nmp4-KO mouse to these osteoporosis therapies. In YEAR 1 we completed experiments comparing ovxinduced bone loss in WT and Nmp4-knockout (KO) mice. We completed the evaluation of bone restoration by PTH mono-therapy in these ovx mice. The most significant findings during this period include the following: 1. Nmp4-KO mice are not protected from ovx-induced bone loss 2. Nmp4-KO mice exhibit an enhanced PTH-induced restoration of bone lost to ovx 3. Ovx does not deplete the expanded Nmp4-KO bone marrow osteogenic reserve 4. Nmp4-KO mesenchymal stem/progenitor cells exhibit an enhanced proliferation and precocious mineralization in culture 5. Nmp4-KO & WT mice under therapy exhibit similar histomorphometry and serum profiles Our key discovery is that the enhanced response to PTH therapy in our Nmp4-KO mouse is preserved in a pre-clinical osteoporosis model. References……………………………………………………………………………. 9 SUBJECT TERMSAppendices…………………………………………………………………………… 9-43 3 INTRODUCTION:The subject of this research is the need for improved osteoporosis therapies. The purpose of this study is to test the efficacy of parathyroid hormone (PTH) mono-therapy and PTH+ antiresportive combination therapies on Nmp4-knockout (KO) and wild type (WT) mice. The scope of the research comprises the following specific aims: (i & ii) to determine the impact of Nmp4 on the efficacy of PTH mono-and combination therapies with bisphosphonates and the selective estrogen receptor modulator (SERM) raloxifene in ovariectomized (ovx) mice; (iii) to determine the cel...

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Section: Discussionmentioning

confidence: 83%

Section: Nmp4 and Pthmentioning

confidence: 99%

Maximizing PTH Anabolic Osteoporosis Therapy

Bidwell¹

2014

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“…In term of NF-1, eight (2.5%) patients among 316 NF-1 patients were found to have an abnormality of the cerebrovascular system [17]. Seven patients had a vasculopathy diagnosed as an incidental findings on neuroimaging, but a patient presented with ischemic stroke.…”

Section: Discussionmentioning

confidence: 99%

A Case of Neurofibromatosis Type 1 Complicated with Repeated Intracerebral Hemorrhage due to Quasi-Moyamoya Disease

Hayashi

Morofuji

Horie

et al. 2015

Journal of Stroke and Cerebrovascular Diseases

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“…2 Recent studies have also demonstrated the presence of neurofibromin on the walls of vascular endothelial cells and in vascular smooth muscle cells. 3 Moyamoya disease (MMD) is a rare inherited cerebral disorder of unknown etiology characterized by obliteration of the internal carotid artery and its branches, with the concomitant development of an abnormal network of collateral vessels. Moyamoya syndrome (MMS), an acquired form of MMD, also displays the angiographic pattern of MMD, although it is usually associated with different risk factors such as NF-1, Down syndrome and previous cranial irradiation, among others.…”

Section: Introductionmentioning

confidence: 99%

Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

et al. 2011

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CONTEXT: Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant.CASE REPORT: An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months. CONCLUSION:Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.RESUMO CONTEXTO: Neurofibromatose tipo 1 (NF-1) é a doença genética autossômica dominante mais prevalente no ser humano. A doença de moyamoya é uma vasculopatia cerebral que raramente se encontra associada à NF-1, particularmente na faixa etária pediátrica. Este estudo descreve a ocorrência desta associação em um lactente.

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Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1

Cited by 247 publications

References 8 publications

Maximizing PTH Anabolic Osteoporosis Therapy

Maximizing PTH Anabolic Osteoporosis Therapy

A Case of Neurofibromatosis Type 1 Complicated with Repeated Intracerebral Hemorrhage due to Quasi-Moyamoya Disease

Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient

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