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My name is Dr. Mariah Lelos.
I'm a Reader at
Cardiff University.
I'm here talking about
cell therapies for
neurodegenerative diseases.
This is Part 2 of my
talk, and I'm going to be
talking about Huntington's
disease in this part.
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Huntington's disease
was first described
in an essay in 1872 called
the ''Essay on chorea'',
as the eponymous
George Huntington had
identified a number
of people who were
experiencing a
degenerative event
and they were presenting with
this key feature of chorea
or this dance-like movement.
We know now that the
typical onset of
Huntington's disease is around
about 30-50 years of age.
But it can have onset as
young as a few years of age,
and as old as the
latest years of life.
Once the disease onset has begun
and the diagnosis of
Huntington's has been made,
it's typically 15-20 years
from diagnosis until death.
The incidence of Huntington's
is relatively rare,
with about 3-7 people
in every 100000
being diagnosed with it.
But some estimates of
Huntington's disease place it
as high as 14 in
every 100000 people.
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Huntington's disease is
a genetic, inherited
autosomal dominant
gene disorder.
So a person who has the
Huntington's disease mutation
has a 50% chance of
passing it on to a child.
If you inherit this mutation,
the penetrance of it
is basically 100%.
What that means is that if
you inherit this mutation,
you are going to develop
Huntington's disease
if you live for long enough.
This mutation occurs in
the Huntington gene,
which resides on chromosome 4,
and it is an
expanded CAG repeat.
People who don't have
Huntington's disease
typically have a CAG repeat
in the region of 10-35 CAGs,
and anybody that has
more than 40 CAG repeats
is considered to have
Huntington's disease.
There is a range
between 36 and 39
where there is
reduced penetrance,
but full Huntington's is from
40 CAG repeats and upwards.
Key pathological features
of Huntington's disease are
