NCL Resource - A gateway for Batten disease

This site serves as a global gateway for clinicians, families, researchers and those offering professional support, who have an interest in or are affected by Batten disease or who wish to find out more.

Information can be accessed via four main routes - Clinicians, Families, Researchers, Professional Support. The Clinical route describes Batten disease and includes details on diagnosis and diagnostic services. The Family route also describes Batten disease and lists support groups. The Research route includes the NCL Mutation Database, established in 1998, and other useful information. The Professional Support route includes details of coordinated initiatives to support those affected by Batten disease.

A fifth route, Research Consortia, serves to meet research needs and currently act as a focus for collaborative efforts to identify the remaining human and animal NCL genes and facilitate functional approaches. An additional route, Creativity, has been launched to display creative items from families with Batten disease, and to celebrate life, in both its fullness and fragility.

Significant News:

New treatment for CLN2 disease approved - Brineura (Biomarin BMN-190 Cerliponase Alfa) by EMA and FDA.

NCL2018 was held in Royal Holloway, University of London, UK, 12-16 Sept 2018

NCL Mutation Database - all diagnostic labs are encouraged to submit their new mutations

Second Edition Batten disease Book available to order.

New nomenclature for the NCLs

By May 2015, this site has received over 40,000 unique visits from 154 countries. 30% of the visits originate from the UK, 25% from the USA. One user reported in Nov 2009 " After scouring the internet for the past few weeks and sifting through scientific journals, personal testimonies, and clinical studies, I continue to return to your NCL website.   At least for me, it is by far the most accessible, user-friendly, and informative site for the layperson that I have found and subsequently used.   Thank you for providing this resource--to the global community, indeed.",  and another more briefly in 2012 "I thought your Batten webpage was fantastic".

This page has been translated into other languages:
Spanish Recursos en línea sobre CeroidoLipofuscinosis Neuronales (NCL) – Un portal para la enfermedad de Batten by Noelia Garcia Calavia
Portuguese Portal LCN - Compreender a Doença de Batten by Rebeca Crespo Fiadeiro
Polish Ceroidolipofuscynozy neuronalne – brama do choroby Battena by Calina Ketnar

A complementary site in German is available here: NCL-Netzes.

This site design was by Marzena Markowska, with further support from UCL.

Financial support is acknowledged from the Batten Disease Support and Research Association USA, and the Batten Disease Family Association UK.