CLN3 Disease

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1		Catherine Yang	+ 670 word(s)	670	2020-12-15 07:18:29

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Yang, C. CLN3 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5095 (accessed on 22 September 2026).

Yang C. CLN3 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5095. Accessed September 22, 2026.

Yang, Catherine. "CLN3 Disease" Encyclopedia, https://encyclopedia.pub/entry/5095 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLN3 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5095

Yang, Catherine. "CLN3 Disease." Encyclopedia. Web. 24 December, 2020.

CLN3 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln3-disease

CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

genetic conditions

References

Cotman SL, Staropoli JF. The juvenile Batten disease protein, CLN3, and itsrole in regulating anterograde and retrograde post-Golgi trafficking. ClinLipidol. 2012 Feb;7(1):79-91.
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.
Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, OliverKL, Berkovic SF, Tinuper P. A novel mutation af Cln3 associated withdelayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002.
Mirza M, Vainshtein A, DiRonza A, Chandrachud U, Haslett LJ, Palmieri M,Storch S, Groh J, Dobzinski N, Napolitano G, Schmidtke C, Kerkovich DM. The CLN3 gene and protein: What we know. Mol Genet Genomic Med. 2019 Dec;7(12):e859. doi: 10.1002/mgg3.859.
Oetjen S, Kuhl D, Hermey G. Revisiting the neuronal localization andtrafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis. J Neurochem. 2016Nov;139(3):456-470. doi: 10.1111/jnc.13744.
Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R,Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R,Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M. Juvenileneuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanishpatients. J Inherit Metab Dis. 2011 Oct;34(5):1083-93. doi:10.1007/s10545-011-9323-7.
Rakheja D, Narayan SB, Bennett MJ. Juvenile neuronal ceroid-lipofuscinosis(Batten disease): a brief review and update. Curr Mol Med. 2007 Sep;7(6):603-8.Review.
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.
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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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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