Neuronal ceroid lipofuscinoses (NCLS)

• Blindness or visual disturbance
• Ataxia, unsteady gait
• Mental retardation with decreasing mental function
• Dementia (deterioration of ability to think)
• Seizures
• Abnormal increased muscle tone or spasm (myoclonus)
• Movement disorder (choreoathetosis)

Tests include:

• 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 biopsyto show abnormal inclusions in cells
• MRI or CT scans of the brainto show atrophy (shrinkage or small brain)
• EEG, whichmay show abnormal excitability of the brain and seizure
• Evoked visual potentialsthat be reduced or even absent
• Electroretinogramthat mayreveal severe impairment of vision
• Genetic testing (available for multiple subtypes of this group of diseases)

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