This website provides information on patients with mutations in the CLN8 gene, including clinical data, molecular data, management, and research options.

The mutations in the CLN8 gene are responsible for the spectrum of neuronal ceroid lipofuscinosis clinical (NCL) phenotypes. NCL belongs to a group of hereditary lysosomal storage disorders causing a progressive neurodegenerative disease. In the course of NCL epilepsy, cognitive deterioration, myoclonus, ataxia, and vision impairment, can be observed. We will focus on the CLN8 gene and its specific manifestations on this website. However, to date, more than 430 variants in at least 13 candidate genes (CLN1-CLN14) were reported as NCL-involved.

This website was created to share and collect information about clinics, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the CLN8 gene.

Adam Sebastian Hirschfeld, MD, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland, hirschfeld@protonmail.com