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0:00
I'm Dr. Wszolek.
I am a consultant
and professor of
neurology at the Mayo Clinic
in Jacksonville, Florida.
My talk today is on
CSF1R-related disorder.
0:16
Before we dissect the
subject of my presentation,
the Mayo Clinic Medical Industry
Relations Committee and
Conflict of Interest
Review Board
wishes me to present
this disclosure slide.
Most of the research I am
going to present to you
today was not funded
by any specific grant.
However, over the
last three years,
I have been serving as
a consultant to two
pharmaceutical companies,
Vigil Neuroscience and
Eli Lilli & Company
on the subject of CSF1R-related
leukoencephalopathy,
and I'm also PI for two
pivotal trials conducted
by Vigil Neuroscience on
CSF1R-related
leukoencephalopathy,
which is natural history study,
and Phase 2 TREM2
agonist antibody trial.
1:13
The story of this illness
starts with two
Belgium physicians,
who back in 1936,
describe a Belgian kindred with
phenotype resembling
frontotemporal dementia,
and with an autopsy
demonstrating
the orthochromatic
leukodystrophy abnormalities.
Based on pathology, they
named their kindred
as pigmentary orthochromatic
leukodystrophy or POLD.
Fifty years later, a Swedish
group headed by Dr. Andersen,
studied a large Swedish
kindred with a somewhat
similar clinical phenotype.
They also had four
autopsies on this family.
They were familiar with
the earlier work of Dr.
van Bogaert and Nyssen,
but thought that the illness
affecting their family was
different than those described
by van Bogaert and Nyssen,
mainly because
pathologically, they
noted the presence
of axonal spheroids.
Thus, they labeled
the disease as
hereditary diffuse
leukoencephalopathy with spheroids.
