CLN5 Disease

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1		Catherine Yang	+ 589 word(s)	589	2020-12-15 07:18:32

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Yang, C. CLN5 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5103 (accessed on 22 September 2026).

Yang C. CLN5 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5103. Accessed September 22, 2026.

Yang, Catherine. "CLN5 Disease" Encyclopedia, https://encyclopedia.pub/entry/5103 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLN5 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5103

Yang, Catherine. "CLN5 Disease." Encyclopedia. Web. 24 December, 2020.

CLN5 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln5-disease

CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.

genetic conditions

References

De Silva B, Adams J, Lee SY. Proteolytic processing of the neuronal ceroidlipofuscinosis related lysosomal protein CLN5. Exp Cell Res. 2015 Oct15;338(1):45-53. doi: 10.1016/j.yexcr.2015.08.021.
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.
Schmiedt ML, Bessa C, Heine C, Ribeiro MG, Jalanko A, Kyttälä A. The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation,transport, and consequences of mutations. Hum Mutat. 2010 Mar;31(3):356-65. doi: 10.1002/humu.21195.
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.
Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-ShoreC, Mole SE, Goebel HH, Sims K. CLN5 mutations are frequent in juvenile andlate-onset non-Finnish patients with NCL. Neurology. 2010 Feb 16;74(7):565-71.doi: 10.1212/WNL.0b013e3181cff70d.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 07 Mar 2021

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