CLN2 Disease

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Catherine Yang	+ 565 word(s)	565	2020-12-15 07:18:28

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln2-disease

CLN2 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin between ages 2 and 4. The initial features usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), intellectual disability that gradually gets worse, and behavioral problems. Individuals with this condition often require the use of a wheelchair by late childhood and typically do not survive past their teens.

genetic conditions

References

Elleder M, Dvoráková L, Stolnaja L, Vlásková H, Hůlková H, Druga R, Poupetová H, Kostálová E, Mikulástík J. Atypical CLN2 with later onset and prolongedcourse: a neuropathologic study showing different sensitivity of neuronalsubpopulations to TPP1 deficiency. Acta Neuropathol. 2008 Jul;116(1):119-24. doi:10.1007/s00401-008-0349-3.
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L,Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA,Poupetova H, Schulz A, Specchio N, Xin W, Miller N. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi:10.1016/j.ymgme.2016.07.011.
Getty AL, Pearce DA. Interactions of the proteins of neuronal ceroidlipofuscinosis: clues to function. Cell Mol Life Sci. 2011 Feb;68(3):453-74. doi:10.1007/s00018-010-0468-6.
Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM,Noher de Halac I. Neuronal ceroid lipofuscinosis type CLN2: a new rationale forthe construction of phenotypic subgroups based on a survey of 25 cases in SouthAmerica. Gene. 2013 Mar 1;516(1):114-21. doi: 10.1016/j.gene.2012.12.058.
Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z,Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS. The clinical and geneticepidemiology of neuronal ceroid lipofuscinosis in Newfoundland. Clin Genet. 2008 Sep;74(3):213-22. doi: 10.1111/j.1399-0004.2008.01054.x.
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.
Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK,Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P.Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J HumGenet. 1999 Jun;64(6):1511-23. Erratum in: Am J Hum Genet. 2004 Dec;75(6):1158.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

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: 749

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References