COMMENTS

  1. Neurofibromatosis Type 2

    Continuing Education Activity. Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple tumors involving the central nervous system (CNS). Bilateral vestibular schwannomas are the hallmark feature of NF2 and are present in approximately 90 to 95 percent of patients.

  2. Neurofibromatosis Clinical Trials

    The objective of this study is to collect blood samples from living patients with neurofibromatosis type 1 (NF1) for future genomic, proteomic, metabolomic, and other research studies. Innovative Trial for Understanding the Impact of Targeted Therapies in NF2 Rochester, MN. The purpose of this study is to test multiple experimental therapies ...

  3. Neurofibromatosis Clinical Trials

    Overview: This research study is a Phase 2 clinical trial. Phase 2 clinical trials test the safety and efficacy of investigational drugs to learn whether the drug(s) works in treating a specific disease. ... As a basket study, the trial will enroll people with NF2-related schwannomatosis (formerly known as neurofibromatosis type 2, or NF2) with ...

  4. Neurofibromatosis Type 2 (NF2)

    Neurofibromatosis type 2, or NF2, is a condition that causes tumors to arise on nerves, particularly those in the skull and spine, though other nerves can be affected. Vestibular schwannomas (also called acoustic neuromas) are tumors that occur in most people with NF2; they affect the nerves that help with balance and hearing.

  5. An update on the CNS manifestations of neurofibromatosis type 2

    Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in the NF2 gene on chromosome 22, with resultant dysfunction of its protein product merlin. NF2 is most commonly associated with the development of bilateral vestibular schwannomas; however, patients also have a ...

  6. A Systematic Review of Recent and Ongoing Clinical Trials in ...

    Introduction: The neurofibromatoses comprise three different genetic conditions causing considerable morbidity and mortality: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). This review summarizes recent and ongoing clinical trials involving patients with neurofibromatoses to better understand the current state of clinical trial research centered ...

  7. Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular

    1. Neurofibromatosis Type 2 (NF2): Introduction and Genetic Overview. Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by pathogenic variants in the NF2 gene (NF2; MIM # 607379) causing loss of function of the tumor suppressor protein, Merlin [1,2,3].NF2 is characterized by central and peripheral nervous system (CNS and PNS) tumors [].

  8. Comparative clinical and genomic analysis of neurofibromatosis type 2

    Neurofibromatosis type 2 (NF2) is a rare hereditary neoplasia syndrome, with an estimated incidence of 1:25,000-1:33,000 1,2.Although the hallmark and primary definitive diagnostic criterion of ...

  9. The genetic landscape and possible therapeutics of neurofibromatosis type 2

    Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma. The clinical manifestations of NF2 depend on the site of involvement. Vestibular schwannoma can present with hearing loss, dizziness, and tinnitus, while ...

  10. Neurofibromatosis

    Neurofibromatosis type 2 (NF2) Schwannomatosis (SWN) Neurofibromatosis 1 ... , conducts and supports research aimed at understanding normal and abnormal development of the brain and nervous system, as well as clinical trials to improve the diagnosis and treatment of neurological disorders, including NF. Other NIH institutes, the Department of ...

  11. Neurofibromatosis Type 2

    Neurofibromatosis type 2 is caused by changes in a gene known as NF2. Genes carry information telling cells within the body how to function. The NF2 gene helps to control how and when cells grow, divide and die. People without Neurofibromatosis type 2 carry two working copies of the NF2 gene in their cells.

  12. Neurofibromatosis, Congressionally Directed Medical Research Programs

    Neurofibromatosis (NF) is a group of three genetically distinct disorders that cause tumors to grow in the nervous system. It also produces other abnormalities in the skin and bones. There are three types of NF: 1) Neurofibromatosis Type 1 or NF1 affects 1 in 3500 people worldwide and is caused by a mutation in the neurofibromin gene, 2 ...

  13. Neurofibromatosis Type 2

    Neurofibromatosis type 2 (NF2), also called NF2-related schwannomatosis, is a hereditary condition most commonly associated with bilateral , also known as acoustic neuromas. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear. Although these tumors are benign, they can cause hearing ...

  14. Neurofibromatosis Type 2 Research

    Neurofibromatosis Type 2 Research. Contact Us Neurofibromatosis Program. 2 Locations. Contact Us ... Follow-up Patients . Interior Menu Condition. Neurofibromatosis Type 2 Home; Our Team; Resources; News and Articles; Footer Navigation. 3401 Civic Center Blvd. Philadelphia, PA 19104. X; Instagram; Facebook; YouTube; Directory. Appointments ...

  15. Neurofibromatosis type 2: MedlinePlus Genetics

    Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2. ... Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one altered copy of the NF2 gene in ...

  16. Neurofibromatosis type 2

    Neurofibromatosis type 2 (NF2) is a disorder characterized by the growth of noncancerous tumors of the nervous system. Childhood symptoms include skin growths and eye findings. Almost all people with NF2 develop vestibular schwannomas affecting both ears. ... They build public awareness of the disease and are a driving force behind research to ...

  17. How a new Gilbert research facility could help find cure for a rare disease

    NF2-related schwannomatosis, formerly called NF type 2, is less common than type 1 and can cause vestibular schwannomas, or the growing of benign nerve tumors in the ears. This often leads to ...

  18. Neurofibromatosis Type 2

    Neurofibromatosis type 2 (NF2) is a genetic disorder that causes slow-growing tumors to develop on the eighth cranial nerve. Learn more from Boston Children's. ... The Children's Tumor Foundation is a non-profit medical foundation that advocates for research and the development of improved treatment options for NF and related disorders. They ...

  19. Neurofibromatosis type 2 (NF2): A clinical and molecular review

    Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. ... The progress being made in cellular research especially with regard to pathways in which the NF2 gene product interacts raises the hopes of ...

  20. Neurofibromatosis

    Neurofibromatosis 2. Neurofibromatosis 2 (NF2) is much less common than NF1. Signs and symptoms of NF2 usually result from the development of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss. Also known as vestibular schwannomas, these tumors grow on the nerve that carries sound and balance information ...

  21. Neurofibromatosis type 2-associated meningiomas: an ...

    OBJECTIVE The management of neurofibromatosis type 2 (NF2)-associated meningiomas is challenging. The role of Gamma Knife radiosurgery (GKRS) in the treatment of these tumors remains to be fully defined. In this study, the authors aimed to examine the role of GKRS in the treatment of NF2-associated meningiomas and to evaluate the outcomes and complications after treatment.

  22. Antihypertension drug may benefit patients with neurofibromatosis type 2

    New research led by investigators at Massachusetts General Hospital and Massachusetts Eye and Ear indicates that the blood pressure drug losartan may benefit patients with neurofibromatosis type 2 ...

  23. Homepage

    The Neurofibromatosis Network is the leading national organization advocating for federal funding for NF research and building and supporting NF communities. Neurofibromatosis Network. Leading NF Advocacy ... Neurofibromatosis Network PO Box 1530 | Wheaton, IL | 60187

  24. Translating current basic research into future therapies for

    Neurofibromatosis type 1 (NF1) is a hereditary tumour syndrome that predisposes to benign and malignant tumours originating from neural crest cells. Biallelic inactivation of the tumour-suppressor ...

  25. Frontiers

    NF2, neurofibromatosis type 2; VS, vestibular schwannoma; m, male; f, female; H1-H3, serviceable hearing; H4-6, bad to lost hearing. ... Our research involved an in-depth examination of various clinical parameters by assessing immune components of the TME through immunohistochemistry. This included the evaluation of T-cell markers (CD4, CD8 ...

  26. Search

    Neurofibromatosis Type 2 (NF2) | Johns Hopkins Medicine Ependymomas, which tend to develop inside the spine in about 20% of people with NF2, can sometimes be cancerous. Depending on the location of these tumors, they</b> ...

  27. Life-threatening gastrointestinal bleeding in a case of

    As early as 1882, Von Recklinghausen described neurofibromatosis as a neuro-dermatological disease. In 1983, I Vujic, RD Sbrocchi, et al. demonstrated angiographically that there can be neurofibromas in the gastro-intestinal tract from the jejunum to the distal ileum. 1 Though clinical characteristics were described long back in the form of skin neurofibromas, café au lait spots, leish ...

  28. Funding Opportunities: DOD Neurofibromatosis Research Program

    The maximum period of performance is 5 years. The maximum allowable funding for the entire period of performance is $1.3 million (M) in direct costs. Indirect costs may be proposed in accordance with the institution's negotiated rate agreement. Neurofibromatosis Research Academy-Scholar Award (new for FY23) - Letter of Intent due August 11 ...

  29. Surgical management of omega deformity in a patient with ...

    Acute and short angular kyphoscoliosis due to dystrophic change is a well-known sequela of neurofibromatosis type 1 (NF-1) [].Karikari et al. [] radiographically classified severe spinal curvatures exceeding 180° into omega, gamma, and alpha types of deformity.An omega deformity is defined as a curvature in which the end vertebra is positioned at the level of, above, or below the apical ...

  30. Cavs owner Dan Gilbert's foundation gives $21M to NF1 research

    Gilbert's son, Nick, suffered from neurofibromatosis type one (NF1), a genetic disorder that causes tumors to grow on nerve pathways anywhere in the body that has no known cure. Nick Gilbert died ...