Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder also referred to as a "phakomatosis," a term derived from the Greek phakos , meaning lentil or birthmark. Patients with NF1 often suffer from multiple lesions of diverse type, including hyperplasias, hypoplasias, hamartomas,...
By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involv...
MeaningIn this fully decentralized, crowdsourced, age-controlled study of individuals with NF1, specific cNF features were identified to target to improve QoL in persons with NF1. Abstract ImportanceThere is a burgeoning interest in therapeutic development for cutaneous neurofibromas ...
The present invention is based on the seminal discovery that mebendazole, alone or in combination with a cyclooxygenase-2 inhibitor, can be used for preventing or delaying the development of neurofibromatosis type 1-related malignancies. Additionally, mebendazole, alone or in combination with a cyclooxy...
Neurofibromatosis type 2 is a neurogenetic disorder with an incidence of about 1:33.000. Hallmarks are bilateral benign vestibular schwannomas, which can lead to deafness or brainstem compression. Volumetric tumor measurements are essential to assess the efficacy of new therapies. We present a statisti...
They are observed in 60 to 70% of the children with neurofibromatosis type 1, being rare in adults. Its etiology and clinical meaning are still not clear. Some studies have associated them to cognitive dysfunction, neurological deficit and risk of malignization. Hamartomas close to the optic ...
The present invention relates to primers for the genotyping of a germinal mutation predisposing to developing type 1 neurofibromatosis, which form a pair composed of: a forward primer - Primer F (NF1_F), and a reverse primer - Primer R (NF1_R), having the following sequences: a) Primer...
Auditory brainstem implants in neurofibromatosis Type 2: is open speech perception feasible? J. Neurosurg. 120 (2), 546e558.Matthies C, Brill S, Varallyay C, Solymosi L, Gelbrich G, Roosen K, Ernestus RI, Helms J, Hagen R, Mlynski R, Shehata-Dieler W, Muller J. Auditory ...
The pathological nerve of the NF patients had a mean SWV of 2.8 m/s, meaning that the median nerves of the NF patients were less “stiff”. Therefore, a pathological nerve may lead to a differing bio-mechanical effect depending on the pathology. However, since SWE is still relatively ...
Anastasaki and Gutmann not only showed that lamotrigine worked in two strains of NF1 mice, they also showed that the drug worked at lower doses than those used for epilepsy, meaning that it was probably safe. Even better, they found that a short course of the drug had lasting effects, bo...