Results 71 to 80 of about 3,249 (205)

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, Volume 99, Issue 1, Page 73-83, January 2026.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Schwannomatosis

Romanian Neurosurgery
Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and rarely meningiomas. People with schwannomatosis are most commonly present between the second and fourth decades of life. The most common feature is localized or diffuse pain or an asymptomatic mass. Schwannomas most commonly involve peripheral and spinal nerves. We
Younes Dehneh, Hamid Khay, Mohamed Khoulali, Moufid Faycal   +3 more
openaire   +1 more source

Spinal Schwannomatosis

JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA, 2018
Schwannomatosis is a rare tumor syndrome characterized by more than one schwannoma without any evidence of other manifestations of neurofibromatosis (NF). A 32-year-old woman was admitted to our hospital because of weakness in her lower extremities. Neurological examination revealed paraparesis with hypoesthesia below T8 level.
Maurus Marques de Almeida Holanda, Daniel De Araujo Paz, Luiz Márcio De Brito Marinho Segundo, Christian Diniz Ferreira   +3 more
openaire   +2 more sources

Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney, Nicholas W. Wood, Rob Rouhl   +2 more
wiley   +1 more source

TANC1::HTRA1 fusion in schwannomas

Brain Pathology, EarlyView.
Ilay Caliskan, Kanish Mirchia, Walter Patrick Devine, Melike Pekmezci   +3 more
wiley   +1 more source

A Case of Physiologic Enhancement of Scarpa′s Ganglia Mimicking Bilateral Vestibular Schwannomas in a Patient With Atypical Meningioma With NF2 Mutation

Case Reports in Radiology, Volume 2026, Issue 1, 2026.
We followed a 36‐year‐old man with an atypical meningioma with somatic NF2 mutation and invasion into the bone, temporalis muscle, and pterygopalatine fossa, treated with surgical resection and adjuvant radiation therapy. His medical history included medulloblastoma treated with resection and adjuvant radiation therapy and a WHO Grade 1 meningioma ...
Elleana A. Paradise, Justin A. Schmidgall, Prachi Dubey, David S. Baskin, Bin S. Teh, Ivo W. Tremont-Lukats, Steve H. Fung, Amit Agrawal   +7 more
wiley   +1 more source

Comprehensive Genetic Analysis of NF2 in Sporadic Vestibular Schwannoma

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 5, October 2025.
Comprehensive genetic analyses, including whole‐exome sequencing, methylation analysis, and MLPA, are essential for accurately identifying NF2 inactivation mechanisms in sporadic vestibular schwannomas. The findings suggest that NF2 methylation may contribute to variations in clinical presentation.
Takeshi Wakabayashi, Koichiro Wasano, Kohei Nakamura, Makoto Hosoya, Ryutaro Kawano, Reika Takamatsu, Masafumi Ueno, Marie N. Shimanuki, Nobuyoshi Tsuzuki, Takanori Nishiyama, Takenori Akiyama, Masahiro Toda, Hiroshi Nishihara, Hiroyuki Ozawa, Naoki Oishi   +14 more
wiley   +1 more source

Primary Coenzyme Q10 Deficiency [PDF]

, 2017
open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara, Navas, P., Salviati, Leonardo, Trevisson, Eva   +3 more
core  

Neurofibromatosis type 2 (NF 2) or schwannomatosis? – Case report study and diagnostic criteria [PDF]

, 1970
Introduction Neurofibromatosis type 2 (NF2) and schwannomatosis are entities that may, due to the similarity of clinical symptoms, cause diagnostic difficulties. Incidence rate of both diseases is similar and estimated between 1:25,000 and 1:40,000.
Błaszczyk, Maciej, Radek, Andrzej, Radek, Maciej, Snopkowska-Wiaderna, Dorota, Tomasik, Bartłomiej, Wojdyn, Maciej   +5 more
core   +2 more sources

Low back pain with axillary mass in a perimenopausal woman: A case of schwannomatosis mimicking metastasis

Radiology Case Reports
Schwannomatosis is a rare neurocutaneous syndrome characterized by the presence of multiple schwannomas along the peripheral nerves, distinctly excluding the vestibular nerves.
Abhikanta Khatiwada, Sharada K C, Aashish Bastakoti, Bibek Koirala, Aalok Kumar Yadav   +4 more
doaj   +1 more source