Corpus Callosum, Partial Agenesis Of, X-Linked

Last update 01 Nov 2024

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Synonyms

CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED, Corpus Callosum, Partial Agenesis of, X-Linked, X-linked complicated corpus callosum dysgenesis

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Introduction

A congenital, X-linked, clinical subtype of L1 syndrome, characterized by variable spastic paraplegia, mild to moderate intellectual disability, and dysplasia, hypoplasia or aplasia of the corpus callosum. In this subtype hydrocephalus, adducted thumbs, or absent speech are not observed.

100 Clinical Results associated with Corpus Callosum, Partial Agenesis Of, X-Linked

100 Translational Medicine associated with Corpus Callosum, Partial Agenesis Of, X-Linked

0 Patents (Medical) associated with Corpus Callosum, Partial Agenesis Of, X-Linked

Literatures (Medical) associated with Corpus Callosum, Partial Agenesis Of, X-Linked

01 Jul 2010·Journal of the Neurological SciencesQ4 · MEDICINE

Novel mutations in the L1CAM gene support the complexity of L1 syndrome

Q4 · MEDICINE

Article

Author: Leonardo Salviati ; Elisabetta Lapi ; Livia Garavelli ; Giovanni Barbon ; Francesca Boaretto ; Cinzia Bertolin ; Maria Luisa Mostacciuolo ; Giovanni Vazza ; Gianluca Occhi ; Maria Teresa Divizia

X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I and X-linked partial agenesis of the corpus callosum are the four rare diseases usually referred to L1 syndrome, caused by mutations in the L1CAM gene. By direct sequencing of L1CAM in 16 patients, we were able to identify seven mutations, five of which were never described before. Patients' phenotype evaluation revealed a correlation between the number of clinical features typical of L1 syndrome and the chance to find causative mutation. Our findings support that L1CAM mutations are associated with widely heterogeneous phenotypes, however the occurrence of several clinical features remains the best criterion for planning molecular testing both in familial and apparently sporadic cases.

01 May 1998·Journal of Medical GeneticsQ1 · MEDICINE

Genotype-phenotype correlation in L1 associated diseases.

Q1 · MEDICINE

Article

Author: Fransen, E ; Van Camp, G ; D'Hooge, R ; Willems, P J ; Vits, L

The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the CRASH syndrome. We investigate here whether a genotype-phenotype correlation exists in CRASH syndrome since its clinical spectrum is highly variable and numerous L1 mutations have been described. We found that (1) mutations in the extracellular part of L1 leading to truncation or absence of L1 cause a severe phenotype, (2) mutations in the cytoplasmic domain of L1 give rise to a milder phenotype than extracellular mutations, and (3) extracellular missense mutations affecting amino acids situated on the surface of a domain cause a milder phenotype than those affecting amino acids buried in the core of the domain.

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Corpus Callosum, Partial Agenesis Of, X-Linked

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