Skip to main content

Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Ceroid lipofuscinosis, neuronal, 4 (kufs type)

Ceroid lipofuscinosis, neuronal, 4 (kufs type)

Alternative Names: CLN4

Disease Category: Neuronal Ceroid Lipofuscinoses

CLN4B disease (autosomal dominant neuronal ceroid lipofuscinosis 4B) is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner.

Research groups studying this disease

Neuronal Ceroid Lipofuscinoses

Batten Disease Clinical Research Consortium (BDCRC)