Article
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
American journal of human genetics - 6 Jul 2023
Cunha Paulina, Petit Emilien, Coutelier Marie, Coarelli Giulia, Mariotti Caterina, Faber Jennifer, Van Gaalen Judith, Damasio Joana, Fleszar Zofia, Tosi Michele, Rocca Clarissa, De Michele Giovanna, Minnerop Martina, Ewenczyk Claire, Santorelli Filippo M, Heinzmann Anna, Bird Thomas, Amprosi Matthias, Indelicato Elisabetta, Benussi Alberto, Charles Perrine, Stendel Claudia, Romano Silvia, Scarlato Marina, Le Ber Isabelle, Bassi Maria Teresa, Serrano Mercedes, Schmitz-Hübsch Tanja, Doss Sarah, Van Velzen Gijs A J, Thomas Quentin, Trabacca Antonio, Ortigoza-Escobar Juan Dario, D'Arrigo Stefano, Timmann Dagmar, Pantaleoni Chiara, Martinuzzi Andrea, Besse-Pinot Elsa, Marsili Luca, Cioffi Ettore, Nicita Francesco, Giorgetti Alejandro, Moroni Isabella, Romaniello Romina, Casali Carlo, Ponger Penina, Casari Giorgio, De Bot Susanne T, Ristori Giovanni, Blumkin Lubov, Borroni Barbara, Goizet Cyril, Marelli Cecilia, Boesch Sylvia, Anheim Mathieu, Filla Alessandro, Houlden Henry, Bertini Enrico, Klopstock Thomas, Synofzik Matthis, Riant Florence, Zanni Ginevra, Magri Stefania, Di Bella Daniela, Nanetti Lorenzo, Sequeiros Jorge, Oliveira Jorge, Van de Warrenburg Bart, Schöls Ludger, Taroni Franco, Brice Alexis, Durr Alexandra
Abstract excerpt
Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations. We therefore screened individuals who had been found to bear variants in a non-expansion SCA-associated gene through genetic testing, and after we eliminated genetic...
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