CLN7 Disease

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1		Catherine Yang	+ 464 word(s)	464	2020-12-15 07:18:34

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Yang, C. CLN7 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5112 (accessed on 22 September 2026).

Yang C. CLN7 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5112. Accessed September 22, 2026.

Yang, Catherine. "CLN7 Disease" Encyclopedia, https://encyclopedia.pub/entry/5112 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLN7 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5112

Yang, Catherine. "CLN7 Disease." Encyclopedia. Web. 24 December, 2020.

CLN7 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln7-disease

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 usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression). Affected children also develop muscle twitches (myoclonus), difficulty coordinating movements (ataxia), speech impairment, and vision loss. Mental functioning and motor skills (such as sitting and walking) decline with age. Individuals with CLN7 disease typically do not survive past their teens.

genetic conditions

References

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 inlate-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compoundheterozygous mutation in the MFSD8 gene and review of the literature data onclinical onset signs. Eur J Paediatr Neurol. 2015 Jan;19(1):78-86. doi:10.1016/j.ejpn.2014.07.008.
Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Cellbiology 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.
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/MFSD8are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366.
Sharifi A, Kousi M, Sagné C, Bellenchi GC, Morel L, Darmon M, Hulková H, RuivoR, Debacker C, El Mestikawy S, Elleder M, Lehesjoki AE, Jalanko A, Gasnier B,Kyttälä A. Expression and lysosomal targeting of CLN7, a major facilitatorsuperfamily transporter associated with variant late-infantile neuronal ceroidlipofuscinosis. Hum Mol Genet. 2010 Nov 15;19(22):4497-514. doi:10.1093/hmg/ddq381.
Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, WilsonC, Lahtinen U, Anttonen AK, Lehesjoki AE. The novel neuronal ceroidlipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. Am J HumGenet. 2007 Jul;81(1):136-46.
Williams RE, Mole SE. New nomenclature and classification scheme for theneuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. doi:10.1212/WNL.0b013e31825f0547.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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