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Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/archneur.1964.00460200094009openalex-snapshot
Hereditary Partial Agenesis of Corpus Callosum
inferredcites →https://doi.org/10.1002/ajmg.1320170126openalex-snapshot
X‐linked mental retardation associated with bilateral clasp thumb anomaly
inferredcites →https://doi.org/10.1002/ajmg.1320170127openalex-snapshot
Mental retardation‐clasped thumb syndrome
inferredcites →https://doi.org/10.1002/ajmg.1320300132openalex-snapshot
FG syndrome update 1988: Note of 5 new patients and bibliography
inferredcites →https://doi.org/10.1002/ajmg.1320410104openalex-snapshot
MASA syndrome: Clinical variability and linkage analysis
inferredcites →https://doi.org/10.1002/ajmg.1320430161openalex-snapshot
MASA syndrome: Delineation of the clinical spectrum at prepubertal age
inferredcites →https://doi.org/10.1002/ajmg.1320430162openalex-snapshot
Clasped‐thumb mental retardation (MASA) syndrome: Confirmation of linkage to Xq28
inferredcites →https://doi.org/10.1002/ajmg.1320440518openalex-snapshot
X‐linked recessive inheritance of dysgenesis of corpus callosum in a chinese family
inferredcites →https://doi.org/10.1002/pd.1970030310openalex-snapshot
Prenantal diagnosis of X‐linked hydrocephaly
inferredcites →https://doi.org/10.1002/pd.1970130603openalex-snapshot
Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers
inferredcites →https://doi.org/10.1007/bf00220075openalex-snapshot
Linkage to Xq28 in a family with nonspecific X-linked mental retardation
inferredcites →https://doi.org/10.1007/bf00273999openalex-snapshot
MASA syndrome: further clinical delineation and chromosomal localisation
inferredcites →https://doi.org/10.1007/bf00401241openalex-snapshot
Linkage studies of X-linked recessive spastic paraplegia using DNA probes
inferredcites →https://doi.org/10.1007/bf00443565openalex-snapshot
X-linked hydrocephalus. Further observations
inferredcites →https://doi.org/10.1007/bf01957757openalex-snapshot
X-linked hydrocephalus: Clinical heterogeneity at a single gene locus
inferredcites →https://doi.org/10.1016/0888-7543(90)90203-7openalex-snapshot
The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man
inferredcites →https://doi.org/10.1016/0888-7543(90)90294-5openalex-snapshot
Assignment of X-linked hydrocephalus to Xq28 by linkage analysis
inferredcites →https://doi.org/10.1016/s0022-3476(57)80255-8openalex-snapshot
Hereditary cerebral palsy
inferredcites →https://doi.org/10.1016/s0888-7543(05)80254-xopenalex-snapshot
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52
inferredcites →https://doi.org/10.1038/ng0394-257openalex-snapshot
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
inferredcites →https://doi.org/10.1038/ng0794-408openalex-snapshot
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
inferredcites →https://doi.org/10.1038/ng0893-331openalex-snapshot
A missense mutation confirms the L1 defect in X–linked hydrocephalus (HSAS)
inferredcites →https://doi.org/10.1038/ng0893-421openalex-snapshot
A duplication in the L1CAM gene associated with X–linked hydrocephalus
inferredcites →https://doi.org/10.1038/ng1092-107openalex-snapshot
Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus
inferredcites →https://doi.org/10.1093/hmg/3.12.2255openalex-snapshot
X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene
inferredcites →https://doi.org/10.1097/00019605-199310000-00005openalex-snapshot
Agenesis of the corpus callosum associated with MASA syndrome
inferredcites →https://doi.org/10.1111/j.1399-0004.1971.tb00262.xopenalex-snapshot
The adducted thumbs syndrome
inferredcites →https://doi.org/10.1111/j.1399-0004.1972.tb04274.xopenalex-snapshot
X‐linked mental retardation and/or hydrocephalus
inferredcites →https://doi.org/10.1111/j.1399-0004.1974.tb01697.xopenalex-snapshot
The MASA syndrome: A new heritable mental retardation syndrome
inferredcites →https://doi.org/10.1111/j.1399-0004.1988.tb03467.xopenalex-snapshot
X‐linked recessive aqueductal stenosis without macrocephaly
inferredcites →https://doi.org/10.1111/j.1399-0004.1989.tb02915.xopenalex-snapshot
X‐linked spastic paraplegia: evidence for homogeneity with a variable phenotype
inferredcites →https://doi.org/10.1111/j.1399-0004.1991.tb03105.xopenalex-snapshot
X‐linked mental retardation with bilateral clasped thumbs: report of another affected family
inferredcites →https://doi.org/10.1111/j.1399-0004.1994.tb04016.xopenalex-snapshot
Fine mapping of X‐linked clasped thumb and mental retardation (MASA syndrome) in Xq28
inferredcites →https://doi.org/10.1111/j.1399-0004.1994.tb04019.xopenalex-snapshot
Clinical aspects of the MASA syndrome in a large family, including expressing females
inferredcites →https://doi.org/10.1111/j.1469-8749.1975.tb03532.xopenalex-snapshot
Sex‐linked Hydrocephalus
inferredcites →https://doi.org/10.1111/j.1469-8749.1976.tb03692.xopenalex-snapshot
Hydrocephalus and Congenital Clasped Thumbs: a Case Report with Electromyographic Evaluation
inferredcites →https://doi.org/10.1111/j.1469-8749.1979.tb01678.xopenalex-snapshot
Aqueductal Stenosis in X‐Linked Hydrocephalus: a Secondary Phenomenon?
inferredcites →https://doi.org/10.1111/j.1600-0404.1991.tb03972.xopenalex-snapshot
X-linked spastic paraplegia
inferredcites →https://doi.org/10.1136/adc.36.189.486openalex-snapshot
The Syndrome of Sex-linked Hydrocephalus
inferredcites →https://doi.org/10.1136/jmg.13.3.217openalex-snapshot
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.
inferredcites →https://doi.org/10.1136/jmg.20.2.122openalex-snapshot
X linked recessive inheritance of agenesis of the corpus callosum.
inferredcites →https://doi.org/10.1136/jmg.20.6.416openalex-snapshot
Agenesis of the corpus callosum in two brothers.
inferredcites →https://doi.org/10.1136/jmg.22.4.325-aopenalex-snapshot
The Hereditary Ataxias and Related Disorders
inferredcites →https://doi.org/10.1136/jmg.23.1.23openalex-snapshot
X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.
inferredcites →https://doi.org/10.1136/jmg.24.4.207openalex-snapshot
Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.
inferredcites →https://doi.org/10.1136/jmg.27.11.688openalex-snapshot
MASA syndrome: new clinical features and linkage analysis using DNA probes.
inferredcites →https://doi.org/10.1136/jmg.28.6.372openalex-snapshot
Localisation of the MRX3 gene for non-specific X linked mental retardation.
inferredcites →https://doi.org/10.1136/jmg.28.6.429-aopenalex-snapshot
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
inferredcites →https://doi.org/10.1136/jmg.29.3.215-aopenalex-snapshot
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
inferredcites →https://doi.org/10.1136/jmg.30.3.214openalex-snapshot
Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
inferredcites →https://doi.org/10.1136/jmg.30.5.381openalex-snapshot
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
inferredcites →https://doi.org/10.1159/000119619openalex-snapshot
X-Linked Hydrocephalus, with Aqueductal Stenosis, Mental Retardation, and Adduction-Flexion Deformity of the Thumbs
inferredcites →https://doi.org/10.1212/wnl.18.3.260openalex-snapshot
Familial aqueductal stenosis and basilar impression
inferredcites →https://doi.org/10.17615/64pe-ab26openalex-snapshot
Further localization of X-linked hydrocephalus in the chromosomal region Xq28
inferredcites →https://doi.org/10.2106/00004623-196648010-00008openalex-snapshot
Congenital Aplasia or Hypoplasia of the Thumb and Finger Extensor Tendons
inferredcites →https://doi.org/10.2106/00004623-196850070-00011openalex-snapshot
Congenital Clasped Thumb (Congenital Flexion-Adduction Deformity of the Thumb)
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1002/(sici)1096-8628(19970822)71:3<336::aid-ajmg15>3.0.co;2-lopenalex-snapshot
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait
inferred← citeshttps://doi.org/10.1002/(sici)1097-0223(199912)19:12<1150::aid-pd733>3.0.co;2-0openalex-snapshot
Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat
inferred← citeshttps://doi.org/10.1002/1097-0223(200012)20:12<1012::aid-pd963>3.0.co;2-xopenalex-snapshot
MASA syndrome: ultrasonographic evidence in a male fetus
inferred← citeshttps://doi.org/10.1002/ajmg.a.30269openalex-snapshot
Three patients with 9p deletions including DMRT1 and DMRT2: A girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal development
inferred← citeshttps://doi.org/10.1002/ajmg.a.31536openalex-snapshot
Contiguous gene deletion involving L1CAM and AVPR2 causes X‐linked hydrocephalus with nephrogenic diabetes insipidus
inferred← citeshttps://doi.org/10.1002/ajmg.a.36179openalex-snapshot
Malformations among the X‐linked intellectual disability syndromes
inferred← citeshttps://doi.org/10.1002/ccr3.1038openalex-snapshot
A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report
inferred← citeshttps://doi.org/10.1002/humu.21172openalex-snapshot
An updated and upgradedL1CAMmutation database
inferred← citeshttps://doi.org/10.1002/mdc3.70827openalex-snapshot
Phenotypic Spectrum and Clinical Approach to Early‐Onset Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1002/pd.1250openalex-snapshot
Prenatal diagnosis of del(9)(p24): a sex reverse case
inferred← citeshttps://doi.org/10.1002/pd.184openalex-snapshot
Prenatal diagnosis of hydrocephalus‐stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases
inferred← citeshttps://doi.org/10.1002/pd.30openalex-snapshot
Pre‐ and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7)
inferred← citeshttps://doi.org/10.1006/exnr.2000.7578openalex-snapshot
Stereological Analysis of Regional Brain Volumes and Neuron Numbers in Rats Displaying a Spontaneous Hydrocephalic Condition
inferred← citeshttps://doi.org/10.1007/bf01876336openalex-snapshot
A novel mutation in LICAM gene in a Japanese patient with x-linked hydrocephalus
inferred← citeshttps://doi.org/10.1007/s00109-024-02454-4openalex-snapshot
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
inferred← citeshttps://doi.org/10.1007/s00381-020-04526-5openalex-snapshot
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus
inferred← citeshttps://doi.org/10.1007/s004310051123openalex-snapshot
Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling
inferred← citeshttps://doi.org/10.1007/s10048-009-0203-3openalex-snapshot
A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice
inferred← citeshttps://doi.org/10.1007/s10354-008-0584-1openalex-snapshot
Akute Verhaltensstörung bei einem Patienten mit Verdacht auf X-chromosomal hereditären Normaldruckhydrozephalus
inferred← citeshttps://doi.org/10.1007/s11910-996-0011-1openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-383834-6.00126-9openalex-snapshot
Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1016/b978-0-12-800109-7.00003-0openalex-snapshot
Genetics of X-Linked Intellectual Disability
inferred← citeshttps://doi.org/10.1016/b978-0-323-42876-7.00003-xopenalex-snapshot
Congenital Hydrocephalus
inferred← citeshttps://doi.org/10.1016/b978-0-443-10513-5.00003-6openalex-snapshot
Ventricular Development, Ventriculomegaly, and Hydrocephalus in the Fetus and Newborn
inferred← citeshttps://doi.org/10.1016/b978-1-4160-3995-2.10001-9openalex-snapshot
Neural Tube Formation and Prosencephalic Development
inferred← citeshttps://doi.org/10.1016/j.celrep.2018.07.081openalex-snapshot
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation
inferred← citeshttps://doi.org/10.1016/j.ejmg.2012.11.004openalex-snapshot
Adducted thumbs: A clinical clue to genetic diagnosis
inferred← citeshttps://doi.org/10.1016/j.neurol.2015.02.017openalex-snapshot
Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting
inferred← citeshttps://doi.org/10.1016/s0072-9752(07)87005-9openalex-snapshot
Embryology and malformations of the forebrain commissures
inferred← citeshttps://doi.org/10.1016/s1090-3798(98)80038-xopenalex-snapshot
Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: New cases of Troyer-like syndrome
inferred← citeshttps://doi.org/10.1016/s1474-4422(19)30235-2openalex-snapshot
Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches
inferred← citeshttps://doi.org/10.1016/s1567-4231(04)04037-7openalex-snapshot
Hereditary spastic paraplegia
inferred← citeshttps://doi.org/10.1016/s1877-184x(09)70092-9openalex-snapshot
Chapter 18 Genetic Testing for Hereditary Ataxia and Hereditary Spastic Paraplegia
inferred← citeshttps://doi.org/10.1038/ng1197-346openalex-snapshot
Disruption of the mouse L1 gene leads to malformations of the nervous system
inferred← citeshttps://doi.org/10.1046/j.1440-1819.2000.00740.xopenalex-snapshot
Late onset X‐linked hydrocephalus with normal cerebrospinal fluid pressure
inferred← citeshttps://doi.org/10.1046/j.1466-9218.2001.00013.xopenalex-snapshot
Precise mapping of the fragile siteFRA12Aon chromosome 12q13.1
inferred← citeshttps://doi.org/10.1086/302017openalex-snapshot
Molecular Analysis of 9p Deletions Associated with XY Sex Reversal: Refining the Localization of a Sex-Determining Gene to the Tip of the Chromosome
inferred← citeshttps://doi.org/10.1086/514863openalex-snapshot
Identification of a Duplication of Xq28 Associated with Bilateral Periventricular Nodular Heterotopia
inferred← citeshttps://doi.org/10.1093/genetics/iyab215openalex-snapshot
A role for the Erk MAPK pathway in modulating SAX-7/L1CAM-dependent locomotion in Caenorhabditis elegans
inferred← citeshttps://doi.org/10.1093/hmg/6.10.1625openalex-snapshot
L1-associated diseases: clinical geneticists divide, molecular geneticists unite
inferred← citeshttps://doi.org/10.1093/hmg/7.6.999openalex-snapshot
L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns
inferred← citeshttps://doi.org/10.1093/med/9780199811793.003.0058openalex-snapshot
Hydrocephaly-Masa Spectrum
inferred← citeshttps://doi.org/10.1097/ypg.0000000000000253openalex-snapshot
Hemizygous mutations in L1CAM in two unrelated male probands with childhood onset psychosis
inferred← citeshttps://doi.org/10.1111/j.1399-0004.1998.tb02667.xopenalex-snapshot
Developmental Biology: Frontiers for Clinical Genetics
inferred← citeshttps://doi.org/10.1111/j.1399-0004.2004.00354.xopenalex-snapshot
Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human
inferred← citeshttps://doi.org/10.1136/jmg.2007.051334openalex-snapshot
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia
inferred← citeshttps://doi.org/10.1136/jmg.34.7.535openalex-snapshot
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.
inferred← citeshttps://doi.org/10.1136/jmg.35.5.399openalex-snapshot
Genotype-phenotype correlation in L1 associated diseases.
inferred← citeshttps://doi.org/10.1136/jmg.39.3.e11openalex-snapshot
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?: Table 1
inferred← citeshttps://doi.org/10.1159/000071603openalex-snapshot
Clinical and molecular contributions to the understanding of X-linked mental retardation
inferred← citeshttps://doi.org/10.1159/000529545openalex-snapshot
X-Linked Hydrocephalus with New L1CAM Pathogenic Variants: Review of the Most Prevalent Molecular and Phenotypic Features
inferred← citeshttps://doi.org/10.11606/t.5.2022.tde-14062022-123318openalex-snapshot
Investigação clínica e genética das paraplegias espásticas hereditárias
inferred← citeshttps://doi.org/10.1523/jneurosci.19-12-04907.1999openalex-snapshot
Abnormalities in Neuronal Process Extension, Hippocampal Development, and the Ventricular System of L1 Knockout Mice
inferred← citeshttps://doi.org/10.1523/jneurosci.23-02-00530.2003openalex-snapshot
The L1 Cell Adhesion Molecule Is Essential for Topographic Mapping of Retinal Axons
inferred← citeshttps://doi.org/10.1534/genetics.114.169581openalex-snapshot
A Novel Nondevelopmental Role of the SAX-7/L1CAM Cell Adhesion Molecule in Synaptic Regulation inCaenorhabditis elegans
inferred← citeshttps://doi.org/10.26479/2018.0406.07openalex-snapshot
Preliminary Study of L1 Syndrome Patients with Mental Retardation
inferred← citeshttps://doi.org/10.3171/2014.12.jns132352openalex-snapshot
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”
inferred← citeshttps://doi.org/10.4103/jmu.jmu_43_22openalex-snapshot
Adducted Thumb in the First Trimester of Pregnancy: An Early Clue to Prenatal Diagnosis of L1 Syndrome
inferred← citeshttps://doi.org/10.7759/cureus.55142openalex-snapshot
Prenatal Identification of a Missense Mutation of the L1CAM Gene Associated With Hydrocephalus Using Next-Generation Sequencing
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