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

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

doi:10.1016/j.jns.2010.03.030

Cited by 13 publications

(18 citation statements)

References 12 publications

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“…Approximately 40% of hydrocephalus cases have genetic components (Haverkamp et al, 1999). At least 43 genes have been associated with hydrocephalus, including 10 genes for congenital hydrocephalus in animal models and one X-linked hydrocephalus gene, L1CAM, in humans (Jouet et al, 1993; Basel-Vanagaite et al, 2006; Zhang et al, 2006; Liebau et al, 2007; Jackson et al, 2009; Wilson et al, 2009; Bertolin et al, 2010; Nakamura et al, 2010; Schäfer and Altevogt, 2010; Tapanes-Castillo et al, 2010; Vos and Hofstra, 2010). …”

Section: Discussionmentioning

confidence: 99%

Dscam mutation leads to hydrocephalus and decreased motor function

Shen

et al. 2011

Protein Cell

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The nervous system is one of the most complicated organ systems in invertebrates and vertebrates. Down syndrome cell adhesion molecule (DSCAM) of the immunoglobulin (Ig) superfamily is expressed widely in the nervous system during embryonic development. Previous studies in Drosophila suggest that Dscam plays important roles in neural development including axon branching, dendritic tiling and cell spacing. However, the function of the mammalian DSCAM gene in the formation of the nervous system remains unclear. Here, we show that Dscamdel17 mutant mice exhibit severe hydrocephalus, decreased motor function and impaired motor learning ability. Our data indicate that the mammalian DSCAM gene is critical for the formation of the central nervous system.

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Section: Discussionmentioning

confidence: 99%

Dscam mutation leads to hydrocephalus and decreased motor function

Shen

et al. 2011

Protein Cell

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“…Five SPGs follow a X-chromosomal trait of inheritance and in three of them the mutated genes have been detected (L1CAM (SPG1) [20], PLP1 (SPG2) [21], and SLC16A2 (SPG22)).…”

Section: Xl-spgmentioning

confidence: 99%

“…Rare, additional phenotypic manifestations include hydrocephalus due to aqueduct stenosis or agenesis of the corpus callosum (Table 5) [20].…”

Section: Spgtypementioning

confidence: 99%

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

Finsterer

Löscher

Quasthoff

et al. 2012

Journal of the Neurological Sciences

253

213

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“…Early pattern formation genes such as SHH, ZIC2, PAX6, and WNT1, neuronal path-finding genes such as L1CAM, genes related to cortical development such as POMT1, and those related to growth regulation such as PIK3CA and AKT3 have been implicated. 1,3,7,10,29,52,53,72,84,85,91,103,122 Developmental disorders presenting with hydrocephalus include neural tube disorders, forebrain and hindbrain developmental disorders, brain growth disorders, and cortical malformations. Alterations in the choroid plexus, ependyma, aqueduct, ventricles, and extraaxial spaces can also lead to hydrocephalus.…”

Section: Theme 1: Causes Of Hydrocephalus Geneticsmentioning

confidence: 99%

An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium “Opportunities for Hydrocephalus Research: Pathways to Better Outcomes”

McAllister

Williams

Walker

et al. 2015

JNS

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abbreviatioNs CPC = choroid plexus cauterization; DTI = diffusion tensor imaging; ETV = endoscopic third ventriculostomy; HCRN = Hydrocephalus Clinical Research Network; ICP = intracranial pressure; iNPH = idiopathic NPH; LPA = lysophosphatidic acid; NIH = National Institutes of Health; NPC = neural precursor cell; NPH = normal pressure hydrocephalus; NSC = neural stem cell; PreOL = precursor oligodendroglia; RCT = randomized controlled trial; SVZ = subventricular zone; TNF = tumor necrosis factor; VP = ventriculoperitoneal; VZ = ventricular zone. . International experts gave plenary talks, and extensive group discussions were held for each of the major themes.The conference emphasized patient-centered care and translational research, with the main objective to arrive at a consensus on priorities in hydrocephalus that have the potential to impact patient care in the next 5 years. The current state of hydrocephalus research and treatment was presented, and the following priorities for research were recommended for each theme. 1) Causes of Hydrocephalus-CSF absorption, production, and related drug therapies; pathogenesis of human hydrocephalus; improved animal and in vitro models of hydrocephalus; developmental and macromolecular transport mechanisms; biomechanical changes in hydrocephalus; and age-dependent mechanisms in the development of hydrocephalus. 2) Diagnosis of Hydrocephalus-implementation of a standardized set of protocols and a shared repository of technical information; prospective studies of multimodal techniques including MRI and CSF biomarkers to test potential pharmacological treatments; and quantitative and cost-effective CSF assessment techniques. 3) Treatment of Hydrocephalus-improved bioengineering efforts to reduce proximal catheter and overall shunt failure; external or implantable diagnostics and support for the biological infrastructure research that informs these efforts; and evidencebased surgical standardization with longitudinal metrics to validate or refute implemented practices, procedures, or tests. 4) Outcome in Hydrocephalus-development of specific, reliable batteries with metrics focused on the hydrocephalic 1427

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

Cited by 13 publications

References 12 publications

Dscam mutation leads to hydrocephalus and decreased motor function

Dscam mutation leads to hydrocephalus and decreased motor function

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium “Opportunities for Hydrocephalus Research: Pathways to Better Outcomes”

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