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Welcome to the talk on
FUS mutations and how
FUS mutations participate in
juvenile forms of Amyotrophic
Lateral Sclerosis, ALS.
I'm Dr. Luc Dupuis Ph.D.,
I'm a research director
at Inserm in France,
at the University of Strasbourg.
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What is the basis of the
association between FUS and ALS?
This comes from a 2009 paper
in Science by Caroline
Vance and colleagues
in which they found an
association between
mutations in the gene
coding FUS and ALS.
These are familial cases of
ALS with autosomal
dominant inheritance,
and you can see, for instance,
that all the black symbols
are affected individuals.
You can appreciate how over
several generations the gene
mutation co-segregates
with the disease
and is consistent with
the pattern of
autosomal inheritance.
FUS mutations are
almost 100% penetrant,
and they lead to a
juvenile form of ALS,
with some cases that begin
across the teenage years.
1:21
The two patterns of FUS
mutations are the following.
FUS mutations share
two features;
the first one is
illustrated on the left.
It's an early onset.
The median age at onset for
FUS patients is in one's '40s,
and most of the
ALS patients with
the FUS mutation have symptoms
of ALS before 50 years of age.
This is 10 to 25 years
younger than other ALS genes.
There are cases with people
younger than 25 years of age,
including teenage cases.
The second characteristic of
FUS mutation is the
fast progression.
About half of the FUS
ALS cases progress very
fast with early onset and
death within 12 months.
