Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Autor: Chantal Sellier, Renate K. Hukema, Rob Willemsen, Manon Boivin

Publikováno v: European Journal of Medical Genetics
European Journal of Medical Genetics, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩
European Journal of Medical Genetics, 61(11), 674-679. Elsevier Masson
European Journal of Medical Genetics, Elsevier, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩

International audience; Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb4a294c338fc1fb21a17c241f544d04
https://www.hal.inserm.fr/inserm-03376146/document

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Autor: Marie-Christine Birling, Chantal Sellier, Frank Ruffenach, Cécile Martinat, Marie Wattenhofer-Donzé, Stéphane Viville, Ronald A.M. Buijsen, Mustapha Oulad-Abdelghani, Hamid Meziane, Peter K. Todd, Alexandre Vincent, Guillaume Pavlovic, Pascal Eberling, Hugues Jacobs, Verónica Martínez-Cerdeño, Flora Tassone, Marie-France Champy, Laura Jung, Fang He, Nicolas Charlet-Berguerand, Philippe Tropel, Mathieu Anheim, Angeline Gaucherot, Tania Sorg, Renate K. Hukema, Mathilde Joint, Rob Willemsen, Sam Natla

Publikováno v: Neuron
Neuron, Elsevier, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩
Neuron, 2017, 93 (2), pp.331-347. ⟨10.1016/j.neuron.2016.12.016⟩
Neuron, 93(2), 331-347. Cell Press

Summary Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by a limited expansion of CGG repeats in the 5′ UTR of FMR1. Two mechanisms are proposed to cause FXTAS: RNA gain-of-function, where CGG RNA sequeste

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac810585be5f301dae038601eb249979
https://hal.archives-ouvertes.fr/hal-03339534

Electrophysiological mapping for the implantation of deep brain stimulators for Parkinson's disease and tremor

Autor: Ali R. Rezai, Maria C. Rodriguez-Oroz, Paul Krack, Robert E. Gross, Alim-Louis Benabid

Publikováno v: Movement Disorders, Vol. 21 Suppl 14 (2006) pp. S259-283
Movement Disorders
Movement Disorders, 2006, 21 Suppl 14, pp.S259-83. ⟨10.1002/mds.20960⟩
Movement Disorders, Wiley, 2006, 21 Suppl 14, pp.S259-83. ⟨10.1002/mds.20960⟩

International audience; The vast majority of centers use electrophysiological mapping techniques to finalize target selection during the implantation of deep brain stimulation (DBS) leads for the treatment of Parkinson's disease and tremor. This revi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::439fd819963d43c5f42ef906c9ce88ae
https://pubmed.ncbi.nlm.nih.gov/16810720

FMR1 Premutations Associated With Fragile X–Associated Tremor/Ataxia Syndrome in Multiple System Atrophy

Autor: Stephen Thibodeau, Jean-Louis Mandel, Alexis Brice, Mathias Toft, Isabelle Le Ber, Elisabeth Scherrer, Matthew J. Farrer, François Tison, Alexandra Durr, Valérie Biancalana

Publikováno v: Archives of Neurology-Chigago
Archives of Neurology-Chigago-, American Medical Association, 2005, 62 (6), pp.962-6. ⟨10.1001/archneur.62.6.962⟩

International audience; BACKGROUND: Fragile X-associated tremor/ataxia syndrome (FXTAS), a novel disorder in male carriers of premutations of the fragile X mental retardation 1 gene (FMR1), was recently described. The clinical presentation of FXTAS m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcc4b101cd8483bf5caf02fe7b173094
https://doi.org/10.1001/archneur.62.6.962