Tissue biopsy to demonstrate lipofuscin (aging pigment) storage
Autofluorescence, a light technique to see if white blood cells contain vacuoles or lipofuscin
Electron microscopy of a skin biopsy to show abnormal inclusions in cells
MRI or CT scans of the brain to show atrophy (shrinkage or small brain)
EEG, which may show abnormal excitability of the brain and seizure
Evoked visual potentials that be reduced or even absent
Electroretinogram that may reveal severe impairment of vision
Genetic testing (available for multiple subtypes of this group of diseases)
Review Date: 11/21/2005
Reviewed By: Christos Ballas, M.D., Attending Psychiatrist, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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