Hello and welcome to the Zero to Finals podcast. My name is Tom and in this episode

I'm going to be talking to you about neurofibromatosis. And you can find written notes on this topic

at zero tofinals.com slash neurofibromatosis or in the neurology section of the Zero to Finals

Medicine book.

So let's get straight into it.

Neurophabromatosis is a genetic condition that causes nerve tumors called neuromas

to develop throughout the nervous system.

These tumors are benign.

However, they do cause neurological and structural problems. There are two types of

neurophibromatosis and each type has different features. Neurofibromatosis type 1 is more common than

type 2. The majority of this section focuses on type 1. Let's let's talk about the genetics,

and particularly the neurofabromatosis 1 gene,

or the NF1 gene.

And this gene is found on chromosome 17

and codes for a protein called neurofibromin,

which is a tumor suppressor protein, which means that when you have a genetic

mutation in this gene, the person is less able to produce the protein called neurofibromin,

and so that tumor suppressor protein is not working, allowing these tumors or neuromas to develop.

Inheritance of mutations in this gene is

autosomal dominant, which means you only need one abnormal copy of the gene to have the condition.

Let's talk about the criteria for neurofibromatosis type 1, and there's clear diagnostic criteria

based on the classic features of the condition.

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