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
. 2017 Apr:69:102-112.
doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4.

Management Strategies for CLN2 Disease

Ruth E Williams  1 , Heather R Adams  2 , Martin Blohm  3 , Jessica L Cohen-Pfeffer  4 , Emily de Los Reyes  5 , Jonas Denecke  3 , Kristen Drago  6 , Charlie Fairhurst  7 , Margie Frazier  8 , Norberto Guelbert  9 , Szilárd Kiss  10 , Annamaria Kofler  11 , John A Lawson  12 , Lenora Lehwald  5 , Mary-Anne Leung  7 , Svetlana Mikhaylova  13 , Jonathan W Mink  2 , Miriam Nickel  3 , Renée Shediac  4 , Katherine Sims  14 , Nicola Specchio  11 , Meral Topcu  15 , Ina von Löbbecke  16 , Andrea West  17 , Boris Zernikow  18 , Angela Schulz  3
Affiliations
Free article
Review

Management Strategies for CLN2 Disease

Ruth E Williams et al. Pediatr Neurol. 2017 Apr.
Free article

Abstract

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability. Twenty-four disease experts were surveyed on CLN2 disease management and a subset met to discuss current practice. Management goals and strategies are consistent among experts globally and are guided by the principles of pediatric palliative care. Goals and interventions evolve as the disease progresses, with a shift in focus from maintenance of function early in the disease to maintenance of quality of life. A multidisciplinary approach is critical for optimal patient care. This work represents an initial step toward the development of consensus-based management guidelines for CLN2 disease.

Keywords: CLN2 disease; consensus; late-infantile Batten disease; late-infantile neuronal ceroid lipofuscinosis; management; neuronal ceroid lipofuscinosis type 2; palliative care.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles