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Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Devisme L, Bouchet C, Gonzalès M, Alanio E, Bazin A, Bessières B, Bigi N, Blanchet P, Bonneau D, Bonnières M, Bucourt M, Carles D, Clarisse B, Delahaye S, Fallet-Bianco C, Figarella-Branger D, Gaillard D, Gasser B, Delezoide AL, Guimiot F, Joubert M, Laurent N, Laquerrière A, Liprandi A, Loget P, Marcorelles P, Martinovic J, Menez F, Patrier S, Pelluard F, Perez MJ, Rouleau C, Triau S, Attié-Bitach T, Vuillaumier-Barrot S, Seta N, Encha-Razavi F. Devisme L, et al. Brain. 2012 Feb;135(Pt 2):469-82. doi: 10.1093/brain/awr357. Epub 2012 Feb 9. Brain. 2012. PMID: 22323514
The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5%). The least severe, cobblestone lissencephaly C, was linked to POMGNT1 mutations (18%). ...
The most severe, which we called cobblestone lissencephaly A, was linked to mutations in POMT1 (34%), POMT2 (8%) and FKRP (1.5 …
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S. Schröter J, et al. Eur J Hum Genet. 2022 Mar;30(3):298-306. doi: 10.1038/s41431-021-01027-0. Epub 2022 Jan 11. Eur J Hum Genet. 2022. PMID: 35017693 Free PMC article.
We here present a multicenter case series of ten unrelated individuals from four European countries using systematic MRI re-evaluation, protein structure analysis, and prediction score modeling. In two cases, pregnancy was terminated due to brain malformations. ...A …
We here present a multicenter case series of ten unrelated individuals from four European countries using systematic MRI re-evaluation, prot …
Midbrain-hindbrain involvement in lissencephalies.
Jissendi-Tchofo P, Kara S, Barkovich AJ. Jissendi-Tchofo P, et al. Neurology. 2009 Feb 3;72(5):410-8. doi: 10.1212/01.wnl.0000333256.74903.94. Epub 2008 Nov 19. Neurology. 2009. PMID: 19020296 Free PMC article.
Abnormalities in the MHB were then recorded. For each structure, a score was assigned, ranging from 0 (normal) to 3 (severely abnormal). ...RESULTS: There was a significant difference in MHB appearance among the three major groups of cLIS, vLIS, and CBSC. The overall sc …
Abnormalities in the MHB were then recorded. For each structure, a score was assigned, ranging from 0 (normal) to 3 (severely abnorma …
The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes.
Yamamoto T, Hiroi A, Osawa M, Shibata N. Yamamoto T, et al. Curr Pediatr Rev. 2014;10(4):282-91. doi: 10.2174/1573396310666141114230927. Curr Pediatr Rev. 2014. PMID: 25403635 Review.
Some muscular dystrophies accompany central nervous system (CNS) lesions, especially in the congenital muscular dystrophies. Cobblestone lissencephaly (type II lissencephaly) is a well-known CNS malformation observed in severe forms of alpha-dystroglycanopath …
Some muscular dystrophies accompany central nervous system (CNS) lesions, especially in the congenital muscular dystrophies. Cobblestone …
Expression and localization of fukutin, POMGnT1, and POMT1 in the central nervous system: consideration for functions of fukutin.
Yamamoto T, Kato Y, Kawaguchi M, Shibata N, Kobayashi M. Yamamoto T, et al. Med Electron Microsc. 2004 Dec;37(4):200-7. doi: 10.1007/s00795-004-0260-5. Med Electron Microsc. 2004. PMID: 15614444 Review.
Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are congenital muscular dystrophies associated with central nervous system (CNS) lesions, represented by cobblestone lissencephaly and eye anomalies …
Fukuyama-type congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS) are congenital muscula …
Cobblestone lissencephaly with normal eyes and muscle.
Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Dobyns WB, et al. Neuropediatrics. 1996 Apr;27(2):70-5. doi: 10.1055/s-2007-973752. Neuropediatrics. 1996. PMID: 8737821
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). ...We report three patients from two consanguineous families of Mi …
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy ( …
Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.
Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD. Brun BN, et al. Neurology. 2017 Feb 14;88(7):623-629. doi: 10.1212/WNL.0000000000003609. Epub 2017 Jan 13. Neurology. 2017. PMID: 28087826 Free PMC article.
CONCLUSIONS: Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, and brainstem bowing are hallmarks of DG and should prompt consideration of these diagnoses. Brain imaging in individuals with DG helps to …
CONCLUSIONS: Developmental abnormalities of the brain such as cobblestone lissencephaly, cerebellar cysts, pontine hypoplasia, …
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations.
Zago S, Silvestri E, Arcangeli T, Calisesi M, Romeo C, Parmeggiani G, Parrini E, Cetica V, Guerrini R, Palicelli A, Bonasoni MP. Zago S, et al. Fetal Pediatr Pathol. 2023 Apr;42(2):334-341. doi: 10.1080/15513815.2022.2116620. Epub 2022 Sep 1. Fetal Pediatr Pathol. 2023. PMID: 36048137
Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, hydrocephalus, cobblestone lissencephaly, and retinal dysplasia. The main genes involved are: POMT1, POMT2, POMGNT1, FKTN, LAR …
Background: Walker-Warburg syndrome (WWS) (OMIM #236670) is an autosomal recessive disorder characterized by congenital muscular dystrophy, …
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J. Bahi-Buisson N, et al. Brain. 2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7. Brain. 2010. PMID: 20929962
Additionally, the white matter abnormalities showed a peculiar evolution from severe hypomyelination at 4 months to patchy lesions later in childhood. Taken as a whole, these observations collectively demonstrate that GPR56 bilateral bifrontoparietal polymicrogyria combine …
Additionally, the white matter abnormalities showed a peculiar evolution from severe hypomyelination at 4 months to patchy lesions later in …
The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
Goergen SK, Alibrahim E, Christie J, Dobrotwir A, Fahey M, Fender L, Frawley K, Manikkam SA, Pinner JR, Sinnott S, Romaniello R, Sandaradura SA, Taylor J, Vasudevan A, Righini A. Goergen SK, et al. AJNR Am J Neuroradiol. 2021 Aug;42(8):1528-1534. doi: 10.3174/ajnr.A7131. Epub 2021 May 6. AJNR Am J Neuroradiol. 2021. PMID: 33958329 Free PMC article.
Of 12 fetuses with small heads, 7 had TUBA1A mutations, 1 had a TUBB3 mutation, 2 had cobblestone lissencephaly postnatally with no genetic diagnosis, 1 had a PDHA1 mutation, and 1 had a fetal akinesia dyskinesia sequence with no pathogenic mutation on trio whole ex …
Of 12 fetuses with small heads, 7 had TUBA1A mutations, 1 had a TUBB3 mutation, 2 had cobblestone lissencephaly postnatally wi …
17 results