0:00
Hello,
my name is Sandra Hofmann,
and I'm a professor in
the Department of Internal
Medicine at the University
of Texas Southwestern
Medical Center in Dallas.
The title of my presentation is
The Neuronal Ceroid Lipofuscinoses.
0:17
The neuronal ceroid lipofuscionses,
or NCLs, as I will refer to them
throughout the rest of my
talk, are a group of inherited
metabolic disorders of
children characterized
by progressive blindness,
progressive mental retardation
and motor deficits, seizures, and
autosomal recessive inheritance,
such that multiple
siblings may be affected.
Auto fluorescent storage
material accumulates
in the brain and other tissues.
The disorder may be diagnosed when
skin, lymphocytes, or brain tissue
from an affected individual
are sectioned from microscopy
and the unstained sections are
placed under fluorescent light
and examined under a microscope,
as shown in the next slide.
1:05
The upper panels of this slide
show different regions of NCL brain
tissue, such as cortex,
hippocampus, pons, and cerebellum,
showing the bright
green autofluorescence,
which is not present in normal
tissue in the lower panels.
1:23
The name, neuronal
ceroid lipofuscinoses
was coined in 1968
by Zeman and Dyken
to distinguish certain patients
from those with Tay-Sachs disease,
which shares a similar phenotype.
This was at a time when the
enzymatic basis of Tay-Sachs
first became known.
The name comes from
first, the observation
that neurons are strongly affected.
The symptoms of the disease
are almost entirely related
to central nervous
system dysfunction,
although the autofluorescence
can be found throughout the body.
The cerebral cortex and hippocampus
are most profoundly affected.
Ceroid is a term pathologists use
to refer to waxy pigments seen
in pathologic states.
Lipofusion is the normal
yellow-brown pigment
seen in all tissues during
the normal course of aging.
It is believed to consist of the
indigestible remnants of organelles
and cellular debris that
accumulates over a lifetime.
