CLN10 Disease

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1		Catherine Yang	+ 611 word(s)	611	2020-12-15 07:18:25

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Yang, C. CLN10 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5085 (accessed on 22 September 2026).

Yang C. CLN10 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5085. Accessed September 22, 2026.

Yang, Catherine. "CLN10 Disease" Encyclopedia, https://encyclopedia.pub/entry/5085 (accessed September 22, 2026).

Yang, C. (2020, December 24). CLN10 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5085

Yang, Catherine. "CLN10 Disease." Encyclopedia. Web. 24 December, 2020.

CLN10 Disease

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln10-disease

CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.

genetic conditions

References

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Kousi M, Lehesjoki AE, Mole SE. Update of the mutation spectrum and clinicalcorrelations of over 360 mutations in eight genes that underlie the neuronalceroid lipofuscinoses. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624.
Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J. Cathepsin D deficiency underlies congenital human neuronalceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45.
Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W,Saftig P, Gartner J. Cathepsin D deficiency is associated with a humanneurodegenerative disorder. Am J Hum Genet. 2006 Jun;78(6):988-98.
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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