Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6

Autor: Jacobi, Heike, Schaprian, Tamara, Beyersmann, Jan, Tezenas du Montcel, Sophie, Schmid, Matthias, Klockgether, Thomas, EUROSCA, Groups, RISCA Study

Publikováno v: Annals of Clinical and Translational Neurology 9(3), 286-295 (2022). doi:10.1002/acn3.51515
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, 2022, 9 (3), pp.286-295. ⟨10.1002/acn3.51515⟩

International audience; Objective: The aim was to study the evolution of disability in spinocerebellar ataxias (SCAs) type 1, 2, 3, and 6 (SCA1, 2, 3, 6). Methods: We analyzed data of two longitudinal cohorts (RISCA, EUROSCA) which recruited ataxic a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade91056b20763f284e76c6700be2f22
https://doi.org/10.1002/acn3.51515

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

Autor: Bonnet, Céline, Pellerin, David, Weber, Frédéric, Girardier, Florent, Robin, Clément, Cacciatore, Stéphanie, Bronner, Myriam, Pourié, Carine, Dreumont, Natacha, Puisieux, Salomé, Iruzubieta, Pablo, Dicaire, Marie-Josée, Roth, Virginie, Evoy, François, Rioux, Marie-France, Hocquel, Armand, La Piana, Roberta, Synofzik, Matthis, Houlden, Henry, Danzi, Matt C, Zuchner, Stephan, Brais, Bernard, Renaud, Mathilde, Clément, Guillemette, Wandzel, Marion, Lambert, Laëtitia, Frismand, Solène, Douarinou, Marian, Grosset, Anais, Bekkour, Ines

Publikováno v: Scientific reports 13(1), 9737 (2023). doi:10.1038/s41598-023-36654-8

Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). Molecular confirmation of FGF14 GAA repeat expansions has thus far mostly relied on long-read sequencing,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_____10678::46171df09a8fd3e0b267941171c51f78

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study

Autor: Rosenbohm, Angela, Pott, Hendrik, Tönnies, Holger, Seibler, Philip, Zschiedrich, Katja, Schaake, Susen, Westenberger, Ana, Zühlke, Christine, Depienne, Christel, Trinh, Joanne, Ludolph, Albert C, Klein, Christine, Thomsen, Mirja, Bahlo, Melanie, Lohmann, Katja, Rafehi, Haloom, Kaya, Sabine, Szymczak, Silke, Volk, Alexander E, Mueller, Kathrin, Silveira, Isabel, Weishaupt, Jochen H

Publikováno v: Movement disorders 37(12), 2427-2439 (2022). doi:10.1002/mds.29221

Background: Coding and noncoding repeat expansions are an important cause of neurodegenerative diseases. Objective: This study determined the clinical and genetic features of a large German family that has been followed for almost 2 decades with an a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a9ea60596d73f80cf8953f3237732b76
https://pubmed.ncbi.nlm.nih.gov/36148898

The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients

Autor: Andreas Thieme, Jennifer Faber, Patricia Sulzer, Kathrin Reetz, Imis Dogan, Miriam Barkhoff, Janna Krahe, Heike Jacobi, Julia-Elisabeth Aktories, Martina Minnerop, Saskia Elben, Raquel van der Veen, Johanna Müller, Giorgi Batsikadze, Jürgen Konczak, Matthis Synofzik, Sandra Roeske, Dagmar Timmann

Publikováno v: Journal of neurology 269(8), 4363-4374 (2022). doi:10.1007/s00415-022-11071-5

Journal of neurology 269(8), 4363-4374 (2022). doi:10.1007/s00415-022-11071-5
Published by Steinkopff, [Darmstadt]

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf6229c2f0101248bee90bf3edf19c5
https://publications.rwth-aachen.de/record/862624

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Autor: Park, Joohyun, Tucci, Arianna, Cali, Elisa, Ryten, M., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K. R., Sosinsky, A., Spooner, W., Vestito, Letizia, Stevens, H. E., Stuckey, A., Sultana, R., Thomas, E. R. A., Thompson, S. R., Tregidgo, C., Tucci, A., Walsh, E., Watters, S. A., Welland, M. J., Maroofian, Reza, Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Deininger, Natalie, Rautenberg, Maren, Admard, Jakob, Hahn, Gesa-Astrid, Bartels, Claudius, van Os, Nienke J H, Horvath, Rita, Cipriani, Valentina, Chinnery, Patrick F, Tiet, May Yung, Hewamadduma, Channa, Hadjivassiliou, Marios, Tofaris, George K, Consortium, Genomics England Research, Wood, Nicholas W, Hayer, Stefanie N, Bender, Friedemann, Menden, Benita, Demidov, German, Cordts, Isabell, Klein, Katrin, Nguyen, Huu Phuc, Krauss, Joachim K, Blahak, Christian, Strom, Tim M, Sturm, Marc, van de Warrenburg, Bart, Lerche, Holger, Maček, Boris, Rocca, Clarissa, Synofzik, Matthis, Ossowski, Stephan, Timmann, Dagmar, Wolf, Marc E, Smedley, Damian, Riess, Olaf, Schöls, Ludger, Houlden, Henry, Haack, Tobias B, Hengel, Holger, Senderek, Jan, Ambrose, J. C., Arumugam, P., Baple, E. L., Bleda, M., Boardman-Pretty, F., Boissiere, J. M., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Butryn, Michaela, Craig, C. E. H., Daugherty, L. C., de Burca, A., Devereau, A., Elgar, G., Foulger, R. E., Fowler, T., Furió-Tarí, P., Hackett, J. M., Halai, D., Velic, Ana, Hamblin, A., Henderson, S., Holman, J. E., Hubbard, T. J. P., Ibáñez, K., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lam, Tanya, Lawson, K., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mason, J., McDonagh, E. M., Moutsianas, L., Mueller, M., Murugaesu, N., Galanaki, Evangelia, Need, A. C., Odhams, C. A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T.

Publikováno v: Genetics in Medicine, 24, 10, pp. 2079-2090
Genetics in medicine 24(10), 2079-2090 (2022). doi:10.1016/j.gim.2022.07.006
Genetics in Medicine, 24, 2079-2090

Purpose Biallelic variants in UCHL1 have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1 variants on the basis of results fro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b701ad5919ac8af14db5fbd7dc6d5394
https://doi.org/10.1016/j.gim.2022.07.006