Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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.
Affiliations
Free Books & Documents
Review

The Neuronal Ceroid Lipofuscinoses

Sara E. Mole.
Free Books & Documents

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.

PubMed Disclaimer

References

    1. Adams H, Augustine E, Cialone J, Newhouse N, Vierhile A, deBlieck E, Marshall F, Mink J, Kwon J, Rothberg P. Sex differences in clinical progression and quality of life in juvenile neuronal ceroid lipofuscinosis. Mol Genet Metab. 2011;102:S3. doi: 10.1016/j.ymgme.2010.11.008.
    1. Albert DV, Yin H, De Los Reyes EC, Vidaurre J. Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker? J Child Neurol. 2016;31:1475–82. doi: 10.1177/0883073816658659. - PubMed
    1. Anderson G, Smith VV, Malone M, Sebire NJ. Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre. J Clin Pathol. 2005;58:1305–10. doi: 10.1136/jcp.2005.027045. PMC1770783. - PMC - PubMed
    1. Anderson GW, Goebel HH, Simonati A. Human pathology in NCL. Biochim Biophys Acta. 2013;1832:1807–26. doi: 10.1016/j.bbadis.2012.11.014. - PubMed
    1. Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, Marshall F, Block R, Dolan J, Mink JW, Batten Study G. Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2015;57:366–71. doi: 10.1111/dmcn.12634. PMC4610252. - PMC - PubMed

LinkOut - more resources