CLN4 Disease

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1		Catherine Yang	+ 542 word(s)	542	2020-12-15 07:18:31

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Yang, C. CLN4 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5097 (accessed on 22 September 2026).

Yang C. CLN4 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5097. Accessed September 22, 2026.

Yang, Catherine. "CLN4 Disease" Encyclopedia, https://encyclopedia.pub/entry/5097 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLN4 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5097

Yang, Catherine. "CLN4 Disease." Encyclopedia. Web. 24 December, 2020.

CLN4 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln4-disease

CLN4 disease is a condition that primarily affects the nervous system, causing problems with movement and intellectual function that worsen over time. The signs and symptoms of CLN4 disease typically appear around age 30, but they can develop anytime between adolescence and late adulthood.

genetic conditions

References

Cadieux-Dion M, Andermann E, Lachance-Touchette P, Ansorge O, Meloche C,Barnabé A, Kuzniecky RI, Andermann F, Faught E, Leonberg S, Damiano JA, Berkovic SF, Rouleau GA, Cossette P. Recurrent mutations in DNAJC5 cause autosomaldominant Kufs disease. Clin Genet. 2013 Jun;83(6):571-5. doi: 10.1111/cge.12020.
Henderson MX, Wirak GS, Zhang YQ, Dai F, Ginsberg SD, Dolzhanskaya N,Staropoli JF, Nijssen PC, Lam TT, Roth AF, Davis NG, Dawson G, Velinov M, ChandraSS. Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathologyand exhibit aberrant protein palmitoylation. Acta Neuropathol. 2016Apr;131(4):621-37. doi: 10.1007/s00401-015-1512-2.
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.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases -clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi:10.1016/j.bbadis.2013.04.008.
Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC,Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, StaropoliJF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA,Carpenter S, Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufsdisease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr1;22(7):1417-23. doi: 10.1093/hmg/dds558.
Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W,Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S.Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in aproportion of cases: study of the Parry family and 8 other families. PLoS One.2012;7(1):e29729. doi: 10.1371/journal.pone.0029729.PLoS One. 2012;7(9). doi:10.1371/annotation/26d7eb64-ccd2-41db-b1aa-7cdc8c1eff95.
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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