CLN11 Disease

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1		Catherine Yang	+ 531 word(s)	531	2020-12-15 07:18:27

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Yang, C. CLN11 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5088 (accessed on 22 September 2026).

Yang C. CLN11 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5088. Accessed September 22, 2026.

Yang, Catherine. "CLN11 Disease" Encyclopedia, https://encyclopedia.pub/entry/5088 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLN11 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5088

Yang, Catherine. "CLN11 Disease." Encyclopedia. Web. 24 December, 2020.

CLN11 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln11-disease

CLN11 disease is a disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms in adolescence or early adulthood. This condition is characterized by recurrent seizures (epilepsy), vision loss, problems with balance and coordination (cerebellar ataxia), and a decline in intellectual function.

genetic conditions

References

Almeida MR, Macário MC, Ramos L, Baldeiras I, Ribeiro MH, Santana I.Portuguese family with the co-occurrence of frontotemporal lobar degeneration andneuronal ceroid lipofuscinosis phenotypes due to progranulin gene mutation.Neurobiol Aging. 2016 May;41:200.e1-200.e5. doi:10.1016/j.neurobiolaging.2016.02.019.
Canafoglia L, Morbin M, Scaioli V, Pareyson D, D'Incerti L, Fugnanesi V,Tagliavini F, Berkovic SF, Franceschetti S. Recurrent generalized seizures,visual loss, and palinopsia as phenotypic features of neuronal ceroidlipofuscinosis due to progranulin gene mutation. Epilepsia. 2014 Jun;55(6):e56-9.doi: 10.1111/epi.12632.
Faber I, Prota JR, Martinez AR, Lopes-Cendes I, França MC Júnior. A newphenotype associated with homozygous GRN mutations: complicated spasticparaplegia. Eur J Neurol. 2017 Jan;24(1):e3-e4. doi: 10.1111/ene.13194.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L,Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Homozygous GRNmutations: new phenotypes and new insights into pathological and molecularmechanisms. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Erratum in: Brain. 2020 Mar 1;143(3):e24.
Kamate M, Detroja M, Hattiholi V. Neuronal ceroid lipofuscinosis type-11 in anadolescent. Brain Dev. 2019 Jun;41(6):542-545. doi:10.1016/j.braindev.2019.03.004.
Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M,Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW,Dahl HH, Bahlo M, Berkovic SF. Strikingly different clinicopathologicalphenotypes determined by progranulin-mutation dosage. Am J Hum Genet. 2012 Jun8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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