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X linked hydrocephalus and MASA syndrome.
Kenwrick S, Jouet M, Donnai D. Kenwrick S, et al. J Med Genet. 1996 Jan;33(1):59-65. doi: 10.1136/jmg.33.1.59. J Med Genet. 1996. PMID: 8825051 Free PMC article. Review.
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inheritance. ...This was confirmed by identification of mutations in patients with X linked hydrocephalus and MASA syndrome withi …
X linked hydrocephalus and MASA syndrome are clinically related, neurological disorders with an X linked recessive mode of inh …
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P, et al. Schrander-Stumpel C, et al. Genet Couns. 1994;5(1):1-10. Genet Couns. 1994. PMID: 8031529
X-linked hydrocephalus and the X-linked MASA syndrome (Mental retardation. Adducted thumbs, Shuffling gait and Aphasia) both have a variable clinical spectrum with great overlap. ...On clinical and molecular grounds it has been hypothesized that both MASA …
X-linked hydrocephalus and the X-linked MASA syndrome (Mental retardation. Adducted thumbs, Shuffling gait and Aphasia) both h …
Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.
Weller S, Gärtner J. Weller S, et al. Hum Mutat. 2001;18(1):1-12. doi: 10.1002/humu.1144. Hum Mutat. 2001. PMID: 11438988 Review.
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. ...
L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis …
MASA syndrome: clinical variability and linkage analysis.
Rietschel M, Friedl W, Uhlhaas S, Neugebauer M, Heimann D, Zerres K. Rietschel M, et al. Am J Med Genet. 1991 Oct 1;41(1):10-4. doi: 10.1002/ajmg.1320410104. Am J Med Genet. 1991. PMID: 1951449
We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). One patient demonstrated spastic paraplegia and psychomotor retardation but no adducted thumbs. The described family underlines the clinical …
We report on a family with three males with MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). …
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ. Fransen E, et al. Eur J Hum Genet. 1995;3(5):273-84. doi: 10.1159/000472311. Eur J Hum Genet. 1995. PMID: 8556302 Review.
We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene. …
We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndr …
Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.
Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP. Schrander-Stumpel C, et al. Am J Med Genet. 1995 May 22;57(1):107-16. doi: 10.1002/ajmg.1320570122. Am J Med Genet. 1995. PMID: 7645588
Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or …
Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show gr …
MASA syndrome: ultrasonographic evidence in a male fetus.
Pomili G, Venti Donti G, Alunni Carrozza L, Ardisia C, Servidio F, Hofstra RM, Gilardi G, Donti E. Pomili G, et al. Prenat Diagn. 2000 Dec;20(12):1012-4. doi: 10.1002/1097-0223(200012)20:12<1012::aid-pd963>3.0.co;2-x. Prenat Diagn. 2000. PMID: 11113917
The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick 307000) and other related neurological disorders, which had previously been considered distinct nosological entities, allowed us to diagnose …
The recent identification of a common etiology among MASA syndrome (McKusick 303300), X-linked hydrocephalus (HSAS) (McKusick …
Three cases with L1 syndrome and two novel mutations in the L1CAM gene.
Marín R, Ley-Martos M, Gutiérrez G, Rodríguez-Sánchez F, Arroyo D, Mora-López F. Marín R, et al. Eur J Pediatr. 2015 Nov;174(11):1541-4. doi: 10.1007/s00431-015-2560-2. Epub 2015 May 7. Eur J Pediatr. 2015. PMID: 25948108
Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus call …
Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental …
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
Bousquet I, Bozon M, Castellani V, Touraine R, Piton A, Gérard B, Guibaud L, Sanlaville D, Edery P, Saugier-Veber P, Putoux A. Bousquet I, et al. Neurogenetics. 2021 Mar;22(1):43-51. doi: 10.1007/s10048-020-00629-y. Epub 2021 Jan 7. Neurogenetics. 2021. PMID: 33415589
Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-linked hydrocephalus with stenosis of the Sylvius aqueduct, MASA syndrome (mental retardation, aphasia, shuffling gait, adducted t …
Pathogenic variants in L1CAM, the gene encoding the L1 cell adhesion molecule, are responsible for a wide clinical spectrum including X-link …
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling.
Takahashi S, Makita Y, Okamoto N, Miyamoto A, Oki J. Takahashi S, et al. Brain Dev. 1997 Dec;19(8):559-62. doi: 10.1016/s0387-7604(97)00079-x. Brain Dev. 1997. PMID: 9440802
Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to stenosis of the aqueduct of Sylvius), MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spa …
Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to s …
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