Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

doi:10.1007/s00401-013-1146-1

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Article

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Acta neuropathologica - 1 Sept 2013

Adle-Biassette Homa, Saugier-Veber Pascale, Fallet-Bianco Catherine, Delezoide Anne-Lise, Razavi Férecheté, Drouot Nathalie, Bazin Anne, Beaufrère Anne-Marie, Bessières Bettina, Blesson Sophie, Bucourt Martine, Carles Dominique, Devisme Louise, Dijoud Frédérique, Fabre Blandine, Fernandez Carla, Gaillard Dominique, Gonzales Marie, Jossic Frédérique, Joubert Madeleine, Laurent Nicole, Leroy Brigitte, Loeuillet Laurence, Loget Philippe, Marcorelles Pascale, Martinovic Jelena, Perez Marie-José, Satge Daniel, Sinico Martine, Tosi Mario, Benichou Jacques, Gressens Pierre, Frebourg Thierry, Laquerrière Annie

Abstract excerpt

L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim of this study was to report detailed neuropathological data from patients with mutations, to delineate the neuropathological criteria required for L1CAM gene...

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PMID: 23820807
DOI: 10.1007/s00401-013-1146-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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