NF2 is a dominantly inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas and to a decreasing frequency meningiomas and ependymomas with the classical disease feature being bilateral vestibular nerve schwannomas. ...
Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common. A strategy for detection of the latter is vital for a sensitive analysis. NF2 represents a difficult management problem with...
Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. The other main tumours are schwannomas of the other cranial, spinal and peripheral nerves; meningiomas both intracranial (including optic nerve meningiomas) and intraspinal, and some low-grade central nervous system ...
These cases demonstrate the aggressive nature of this disease and the difficulties of surgically excising the bilateral tumours. They also emphasise the need for novel therapies that can slow or prevent tumour growth to preserve sensory function in people living with NF2-SWN....
NF2-related schwannomatosis (NF2) is associated with various tumors of the central and peripheral nervous system. There is a wide range of disabilities these patients may suffer from and there is no validated clinical classification for disease severity. We propose a clinical classification consisting...
Additionally, there lacks a validated clinical classification for assessing disease severity.This study proposes a clinical classification comprising three severity grades, aiming to enhance communication among caregivers regarding individual patients and aid in clinical management. MATERIAL AND METHODS. The ...
NF2-SWN represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Gene therapy involves replacing a faulty gene or adding a new gene in an attempt to cure disease or improve the patient's condition. Several studies of gene therapy for ...