Neurofibromatosis Type 1: Introduction

00:01 So what's NF1? What used to be called peripheral neurofibromatosis because a lot of the manifestations happen out in the periphery.

00:09 That's really not true. Patients can have central nervous system manifestations and peripheral nervous system manifestations, but I like that because it reminds me to look in the peripheral nervous system, and that patients will have skin findings.

00:22 A gentleman von Recklinghausen, was one of the first to describe this condition.

00:26 And so you may see it in the literature in textbooks called von Recklinghausen neurofibromatosis, or von Recklinghausen disease.

00:34 It is common.

00:35 It's actually the most common neurologic genetic condition, right behind cystic fibrosis.

00:41 It's present in about one in 3000 individuals or occurs in about one in 3000 live births.

00:48 It is genetic.

00:49 And you're going to remember this condition as a genetic condition that is autosomal dominant.

00:54 That's results from a mutation in the NF1 gene.

00:57 We're gonna think about that NF1 gene that lives on Chromosome 17.

01:03 So what is Chromosome 17? Well, here's a good example of it.

01:06 This is a representation of the chromosome 17.

01:10 There's some neat genes on this chromosome that you don't have to know, but I think they're pretty neat.

01:15 The gene ASPA for Canavan disease is on chromosome 17.

01:21 The TP53 gene, which is the most commonly mutated gene and all of cancer lives on chromosome 17.

01:27 The NF1 GENE, 17q11.

01:30 That's the location, that's the home, that's the address of the NF1 gene on chromosome 17, which I want you to remember.

01:38 PMP 22 gene, as well as the GFAP gene for Alexander's disease.

01:42 This is an important chromosome and the NF1 gene is an important gene to remember.