Neuronal Ceroid-Lipofuscinosis
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Neuronal Ceroid-Lipofuscinosis
An inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin. Affected individuals develop retinal degeneration, seizures, myoclonus, ataxia, rigidity, and progressive dementia. Clinically there are four subtypes, divided by age of onset of symptoms: infantile (Santavuori-Haltia type), late infantile (Jansky-Bielschowsky type), juvenile (Spielmeyer-Vogt type), and adult (Kuf's disease). The late infantile and juvenile forms may both also be referred to as Batten Disease and Batten-Mayou Disease. (Adams et al., Principles of Neurology, 6th ed, p957)
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