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.