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Review

The Neuronal Ceroid Lipofuscinoses

Sara E. Mole
Jeffrey L. Noebels  1 , Massimo Avoli  2 , Michael A. Rogawski  3 , Annamaria Vezzani  4 , Antonio V. Delgado-Escueta  5
, editors.
In: Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 50.
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Review

The Neuronal Ceroid Lipofuscinoses

Sara E. Mole.
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Excerpt

The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited lysosomal storage disorders that share similar pathological and clinical features. They are characterized by accumulation of autofluorescent storage material within the lysosome and the death of neurons. Clinical presentation includes medically refractory epilepsy, visual failure, and motor and cognitive decline, usually beginning in childhood and ending in premature death. Each NCL is caused by mutations in a single gene and is associated with a typical age of onset and disease progression. However, all NCL also have a broader age of onset and disease course. Considerable expertise has been developed in the care and management of patients. There is one treatment in the clinic and others are in development.

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