This website provides information on patients with mutations in the CLN5 gene, including clinical data, molecular data, management and research options.
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally.
CLN5 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. CLN5 was classically described in Finnish patients with onset between 4 and 7 years of age and is often referred to as the 'Finnish variant of late-infantile NCL' (Finnish vLINCL). With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect.
The syndrome caused by mutations in the CLN5 gene is an inherited disorder characterized by progressive dementia, seizures, and progressive visual failure.
Not all individuals with a mutation in the CLN5 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CLN5 gene.
Dr. Stephanie Efthymiou, PhD, Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, : London WC1N 3BG, UK, firstname.lastname@example.org
Prof. Henry Houlden, MD, PhD, Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK, email@example.com