Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

Schrander-Stumpel, C. T. R. M.; Höweler, C. J.; Jones, Marilyn C.; Sommer, Annemarie; Stevens, Cathy A.; Tinschert, Sigrid; Israel, J; Fryns, J. P.

doi:10.1002/ajmg.1320570122

Cited by 61 publications

(34 citation statements)

References 60 publications

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“…1 The genetic mechanisms involved in a number of these X-linked syndromes have been identified and include repetitive DNA expansion in Fragile X 2 and FRAXE, 3 microdeletions, 4 and point mutations in the Mental retardation, Aphasia, Shuffling gait, and Adducted thumbs (MASA) syndrome, 5 and Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus syndrome (CRASH). 6 However the causes of the majority of MR remain idiopathic at the current time.…”

Section: Introductionmentioning

confidence: 99%

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Philibert¹,

Bh²,

Winfield³

et al. 1998

Mol Psychiatry

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Mental retardation is a prominent feature of many neurodevelopmental syndromes. In an attempt to identify genetic components of these illnesses, we isolated and sequenced a large number of human genomic cosmid inserts containing large trinucleotide repeats. One of these cosmids, Cos-4, maps to the X-chromosome and contains the sequence of a 7.3-kb mRNA. Initial polymorphism analysis across a region of repetitive DNA in this gene revealed a rare 12-bp exonic variation ( 1% in non-ill males) having an increased prevalence in non-Fragile X males with mental retardation (4%, P Ͻ0.04, n = 81). This variant was not present in the highly conserved mouse homologue that has 100% amino acid identity to the human sequence near the polymorphism. Subsequent screening of two additional independent cohorts of non-Fragile X mentally retarded patients and ethnically matched controls demonstrated an even higher prevalence of the 12-bp variant in males with mental retardation (8%, P Ͻ0.0003, n = 125, and 14%, P Ͻ0.10, n = 36) vs the controls. Multivariate analysis was conducted in an effort to identify other phenotypic components in affected individuals, and the findings suggested an increased incidence of histories of hypothyroidism (P Ͻ0.001) and treatment with antidepressants (P Ͻ0.001). We conclude that the presence of this 12-bp variant confers significant susceptibility for mental retardation.

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Section: Introductionmentioning

confidence: 99%

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Philibert¹,

Bh²,

Winfield³

et al. 1998

Mol Psychiatry

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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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“…Other clinical characteristics are adducted thumbs, mental retardation, and lower limb spasticity. In most families, the affected boys die before, during, or soon after birth (Schrander-Stumpel et al, 1995). A less severe form of the disease has been published under the acronym MASA syndrome (MIM# 303350).…”

Section: Introductionmentioning

confidence: 99%

An updated and upgradedL1CAMmutation database

Vos

Hofstra

2010

Hum. Mutat.

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ABSTRACT:The L1 syndrome is an X-linked recessive disease caused by mutations in the L1CAM gene. To date more than 200 different mutations have been reported, scattered over the entire gene, about 35% being missense mutations. Although it is tempting to consider these missense mutations as being disease-causing, one should be careful in drawing any firm conclusions, unless there is additional supporting information. This is in contrast to truncating mutations, which are always considered to be disease-causing, unless they involve truncations close to the gene stop codon. In order to allow conclusions to be drawn on the disease-causing nature of L1CAM (missense) mutations, we have updated and upgraded our LICAM mutation database with more pathogenicity data and clinical information collected from the literature or generated by our own research. As a result, the renewed database offers condensed scientific information, allowing conclusions to be drawn on the pathogenicity and severity of LICAM mutations based on multiple factors. The L1CAM Mutation Database is at: www.l1cammutationdatabase.info.

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Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

Cited by 61 publications

References 60 publications

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

Association of an X-chromosome dodecamer insertional variant allele with mental retardation

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”

An updated and upgradedL1CAMmutation database

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