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.
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
by progressive blindness,
progressive mental retardation
and motor deficits, seizures, and
autosomal recessive inheritance,
such that multiple
siblings may be affected.
Auto fluorescent storage
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.
The upper panels of this slide
show different regions of NCL brain
tissue, such as cortex,
hippocampus, pons, and cerebellum,
showing the bright
which is not present in normal
tissue in the lower panels.