Glossary of termsCentral neurofibromatosis Central neurofibromatosis (another name for neurofibromatosis type II) occurs as a result of a mutation of the merlin gene (also known as schwannomin or NP2), which is located on chromosome 22q12. This gene also belongs to the tumor suppressor genes. Type 2 neurofibromatosis accounts for only 10% of all cases of the disease, i.e. its incidence is much lower compared to NF1. The role of the merlin gene in the human body is not yet clear.
The main signs of the disorder:
The appearance of bilateral auditory nerve neurinomas (these are tumors of the vestibular nerve or VIII pair of cranial nerves, another name for which is schwannomas), which often lead to hearing loss. Thus, a distinctive feature of NF 2 is hearing loss due to auditory nerve neuronal damage at the age of about twenty.
Consequences of tumors: - appearance of headaches;
- problems with balance and various peripheral dizziness, often, these formations affect the functionality of the inner ear;
- the patient develops muscle weakness (paralysis) due to damage to the facial nerve (cranial nerve 7 or CN VII);
- patients with NF2 may also develop other brain tumors, as well as spinal cord tumors;
- characteristic signs are deafness and tinnitus.
NF 2 increases the risk of meningiomas and ependymomas. <<< |
