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12 results on '"Ferrand, Mickaël"'

6. Narcolepsy secondary to anti-Ma2 encephalitis: two case reports

Author

Brunet de Courssou, Jean-Baptiste, primary, Testard, Pauline, additional, Sallansonnet-Froment, Magali, additional, Brechemier, Marie-Laure, additional, Ricard, Damien, additional, Psimaras, Dimitri, additional, Ferrand, Mickaël, additional, Maillet, Thibault, additional, Depierre, Patricia, additional, Ohlmann, Charlotte, additional, Capron, Jean, additional, Arnulf, Isabelle, additional, and Gales, Ana, additional

Published
2023
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10. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Author

Crow, Yanick J, primary, Marshall, Heather, additional, Rice, Gillian I, additional, Seabra, Luis, additional, Jenkinson, Emma M, additional, Baranano, Kristin, additional, Battini, Roberta, additional, Berger, Andrea, additional, Blair, Edward, additional, Blauwblomme, Thomas, additional, Bolduc, Francois, additional, Boddaert, Natalie, additional, Buckard, Johannes, additional, Burnett, Heather, additional, Calvert, Sophie, additional, Caumes, Roseline, additional, Ng, Andy Cheuk‐Him, additional, Chiang, Diana, additional, Clifford, David B, additional, Cordelli, Duccio M, additional, Burca, Anna, additional, Demic, Natasha, additional, Desguerre, Isabelle, additional, De Waele, Liesbeth, additional, Di Fonzo, Alessio, additional, Dunham, S. Richard, additional, Dyack, Sarah, additional, Elmslie, Frances, additional, Ferrand, Mickaël, additional, Fisher, Gemma, additional, Karimiani, Ehsan Ghayoor, additional, Ghoumid, Jamal, additional, Gibbon, Frances, additional, Goel, Himanshu, additional, Hilmarsen, Hilde T, additional, Hughes, Imelda, additional, Jacob, Anu, additional, Jones, Elizabeth A, additional, Kumar, Ram, additional, Leventer, Richard J, additional, MacDonald, Shelley, additional, Maroofian, Reza, additional, Mehta, Sarju G, additional, Metz, Imke, additional, Monfrini, Edoardo, additional, Neumann, Daniela, additional, Noetzel, Michael, additional, O'Driscoll, Mary, additional, Õunap, Katrin, additional, Panzer, Axel, additional, Parikh, Sumit, additional, Prabhakar, Prab, additional, Ramond, Francis, additional, Sandford, Richard, additional, Saneto, Russell, additional, Soh, Calvin, additional, Stutterd, Chloe A, additional, Subramanian, Gopinath M, additional, Talbot, Kevin, additional, Thomas, Rhys H, additional, Toro, Camilo, additional, Touraine, Renaud, additional, Wakeling, Emma, additional, Wassmer, Evangeline, additional, Whitney, Andrea, additional, Livingston, John H, additional, O'Keefe, Raymond T, additional, and Badrock, Andrew P, additional

Published
2020
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12. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Author

Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Õunap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, and Badrock AP

Subjects
Adolescent, Adult, Aged, Animals, Calcinosis complications, Calcinosis pathology, Child, Child, Preschool, Consanguinity, Disease Models, Animal, Female, Heterozygote, Humans, Infant, Infant, Newborn, Leukoencephalopathies complications, Leukoencephalopathies pathology, Male, Middle Aged, Pathology, Molecular, Young Adult, Zebrafish genetics, Calcinosis genetics, Genetic Association Studies, Leukoencephalopathies genetics, RNA, Small Nucleolar genetics
Abstract

Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the high allelic polymorphism across SNORD118 in controls, we set out to provide a description of the molecular pathology and clinical spectrum observed in a cohort of patients with LCC. We identified 64 affected individuals from 56 families. Age at presentation varied from 3 weeks to 67 years, with disease onset after age 40 years in eight patients. Ten patients had died. We recorded 44 distinct, likely pathogenic, variants in SNORD118. Fifty two of 56 probands were compound heterozygotes, with parental consanguinity reported in only three families. Forty nine of 56 probands were either heterozygous (46) or homozygous (three) for a mutation involving one of seven nucleotides that facilitate a novel intramolecular interaction between the 5' end and 3' extension of precursor-U8. There was no obvious genotype-phenotype correlation to explain the marked variability in age at onset. Complementing recently published functional analyses in a zebrafish model, these data suggest that LCC most often occurs due to combinatorial severe and milder mutations, with the latter mostly affecting 3' end processing of precursor-U8., (© 2020 Wiley Periodicals LLC.)

Published
2021
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