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Yang, C. CLN6 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5110 (accessed on 22 September 2026).
Yang C. CLN6 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5110. Accessed September 22, 2026.
Yang, Catherine. "CLN6 Disease" Encyclopedia, https://encyclopedia.pub/entry/5110 (accessed September 22, 2026).
Yang, C. (2020, December 24). CLN6 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5110
Yang, Catherine. "CLN6 Disease." Encyclopedia. Web. 24 December, 2020.
CLN6 Disease
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln6-disease

CLN6 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between early and late childhood, but sometimes they can appear in adulthood.

genetic conditions

References

  1. Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M,Chiapparini L, Granata T, Binelli S, Scaioli V, Garavaglia B, Nardocci N,Berkovic SF, Franceschetti S. Electroclinical spectrum of the neuronal ceroidlipofuscinoses associated with CLN6 mutations. Neurology. 2015 Jul28;85(4):316-24. doi: 10.1212/WNL.0000000000001784.
  2. Kay C. Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form. Clin Genet. 2011Dec;80(6):505-6. doi: 10.1111/j.1399-0004.2011.01761.x.
  3. 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.
  4. Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H,Matsumoto N, Haginoya K. First Japanese variant of late infantile neuronal ceroidlipofuscinosis caused by novel CLN6 mutations. Brain Dev. 2016 Oct;38(9):852-6.doi: 10.1016/j.braindev.2016.04.007.
  5. 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.
  6. 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
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 899
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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