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EKATERINA ROGAEVA: Hello.
My name is Ekaterina Rogaeva.
And I will present the data about
the genetics of early-onset form
of Alzheimer's disease which is
considered to be highly familial.
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We will talk about contribution
of APP, PSEN1, and PSEN2
in the early-onset
form of the disorder.
We will also try to
understand why these mutations
lead to Alzheimer's disease.
We'll talk phenotypic variability
in early-onset disease
and also genetic
testing for Alzheimer's
disease in clinical practice.
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But first, I have to make a few
general points about Alzheimer's
disease, which is the most common
form of progressive dementia.
The brain pathology is
characterized by neuronal loss,
eventually leading to
severe brain atrophy.
Accumulation of the protein
called amyloid, beta-peptide,
or A beta in the
form of extracellular
amyloid plaques is the
earliest sign of the brain
pathology related to
Alzheimer's disease.
And finally, the disease
pathology also associated
is the deposition of
tau positive neurofibrillary
tangles inside of neurons.
Clearly the formation of tangles
has neurotoxic consequences itself
because mutations in
this gene are responsible
for frontotemporal dementia.
However, currently there
is no convincing data
that tau is genetically
involved in early-onset form
of Alzheimer's disease.
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Neurotoxic A. Beta peptides
are generated by cleavage
of amyloid precursor
protein known as APP.
It is a type 1 membrane
protein, a fragment of which
accumulates in
Alzheimer's disease brain.
Accumulation of amyloid plaques
starts decaying prior to disease
symptoms and precedes
the tau pathologen.
