CLN7 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 7. The initial features are usually vision loss and problems with movement that might seem like clumsiness. Additional signs and symptoms of CLN7 disease include muscle twitches (myoclonus), difficulty coordinating movements (ataxia), recurrent seizures (epilepsy), and speech impairment. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.

CLN7 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.

The incidence of CLN7 disease is unknown; more than 70 cases have been described in the scientific literature. CLN7 disease was first diagnosed in the Turkish population and was thought to be limited to individuals in that group. However, CLN7 disease has now been identified in people around the world. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide.

Mutations in the MFSD8 gene cause CLN7 disease. The MFSD8 gene provides instructions for making a protein whose function is unknown. The MFSD8 protein is embedded in the membrane of cell compartments called lysosomes, which digest and recycle different types of molecules. Based on the structure of the protein, MFSD8 probably transports molecules across the lysosomal membrane, but the specific molecules it moves have not been identified.

MFSD8 gene mutations likely lead to the production of a protein with altered structure or function. It is unclear how an altered MFSD8 protein leads to the severe neurological features of CLN7 disease. CLN7 disease, like other NCLs, is characterized by the accumulation of proteins and other substances in lysosomes. These accumulations occur in cells throughout the body; however, nerve cells seem to be particularly vulnerable to their effects. These accumulations can cause cell damage leading to cell death. Individuals with CLN7 disease have gradual nerve cell loss in certain parts of the brain, which likely leads to the signs and symptoms of this condition.

Genetic Testing Information

• Genetic Testing Registry: Neuronal ceroid lipofuscinosis 7

Genetic and Rare Diseases Information Center

• CLN7 disease

Patient Support and Advocacy Resources

• National Organization for Rare Disorders (NORD)

Clinical Trials

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

Scientific Articles on PubMed

• PubMed

• Craiu D, Dragostin O, Dica A, Hoffman-Zacharska D, Gos M, Bastian AE, Gherghiceanu M, Rolfs A, Nahavandi N, Craiu M, Iliescu C. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi: 10.1016/j.ejpn.2014.07.008. Epub 2014 Aug 7. Citation on PubMed
• Kollmann K, Uusi-Rauva K, Scifo E, Tyynela J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019. Epub 2013 Feb 9. Citation on PubMed
• Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5. Citation on PubMed
• Sharifi A, Kousi M, Sagne C, Bellenchi GC, Morel L, Darmon M, Hulkova H, Ruivo R, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B, Kyttala A. Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. Hum Mol Genet. 2010 Nov 15;19(22):4497-514. doi: 10.1093/hmg/ddq381. Epub 2010 Sep 7. Citation on PubMed or Free article on PubMed Central
• Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Citation on PubMed or Free article on PubMed Central
• Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547. Citation on PubMed