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0:00
Hello, my name is
Ekaterina Rogaeva.
I will present the data about
Genetics of the Early-Onset
form of Alzheimer's Disease
which is considered to
be highly familial.
0:15
We will talk about
the contribution of
APP, presenilin-1,
and presenilin-2 in
the early-onset form
of the disorder.
We will also try to understand
why these mutations lead
to Alzheimer's disease.
We will talk about
phenotypic variability in
early-onset disease and
also genetic testing for
Alzheimer's disease
in clinical practice.
0:41
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 β-peptide or
Aβ in the form of
extracellular amyloid plaques is
the earliest sign of
the brain pathology related
to Alzheimer's disease.
Finally, the disease
pathology is
also associated with
the deposition of
tau-positive neurofibrillary
tangles inside the 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
the early-onset form of
Alzheimer's disease.
1:40
Neurotoxic Aβ-peptides
are generated by
the cleavage of amyloid
precursor protein known as APP.
It is a type 1 membrane protein;
a fragment of which
accumulates in
the Alzheimer's disease brain.
Accumulation of
amyloid plaques starts
decades prior to
disease symptoms and
precedes the tau pathology.
