L1 Syndrome

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Xu, C. L1 Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4443 (accessed on 13 September 2026).

Xu C. L1 Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4443. Accessed September 13, 2026.

Xu, Camila. "L1 Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4443 (accessed September 13, 2026).

Xu, C. (2020, December 23). L1 Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4443

Xu, Camila. "L1 Syndrome." Encyclopedia. Web. 23 December, 2020.

L1 Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/l1-syndrome

L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity and include, from most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.

genetic conditions

References

Adle-Biassette H, Saugier-Veber P, Fallet-Bianco C, Delezoide AL, Razavi F,Drouot N, Bazin A, Beaufrère AM, Bessières B, Blesson S, Bucourt M, Carles D,Devisme L, Dijoud F, Fabre B, Fernandez C, Gaillard D, Gonzales M, Jossic F,Joubert M, Laurent N, Leroy B, Loeuillet L, Loget P, Marcorelles P, Martinovic J,Perez MJ, Satge D, Sinico M, Tosi M, Benichou J, Gressens P, Frebourg T,Laquerrière A. Neuropathological review of 138 cases genetically tested forX-linked hydrocephalus: evidence for closely related clinical entities of unknownmolecular bases. Acta Neuropathol. 2013 Sep;126(3):427-42. doi:10.1007/s00401-013-1146-1.
Christaller WA, Vos Y, Gebre-Medhin S, Hofstra RM, Schäfer MK. L1 syndromediagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 Jan;91(1):115-120. doi:10.1111/cge.12763.
Ferese R, Zampatti S, Griguoli AM, Fornai F, Giardina E, Barrano G, Albano V, Campopiano R, Scala S, Novelli G, Gambardella S. A New Splicing Mutation in theL1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS). J Mol Neurosci. 2016Jul;59(3):376-81. doi: 10.1007/s12031-016-0754-3.
Finckh U, Schröder J, Ressler B, Veske A, Gal A. Spectrum and detection rateof L1CAM mutations in isolated and familial cases with clinically suspectedL1-disease. Am J Med Genet. 2000 May 1;92(1):40-6.
Kanemura Y, Okamoto N, Sakamoto H, Shofuda T, Kamiguchi H, Yamasaki M.Molecular mechanisms and neuroimaging criteria for severe L1 syndrome withX-linked hydrocephalus. J Neurosurg. 2006 Nov;105(5 Suppl):403-12.
Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F. Three cases with L1 syndrome and two novel mutations in the L1CAM gene. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2.
Weller S, Gärtner J. Genetic and clinical aspects of X-linked hydrocephalus(L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001;18(1):1-12. Review.

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Subjects: Genetics & Heredity

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