Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14. Neuropathological studies have shown that neuronal loss is largely restricted to the cerebellum. Although the repeat locus is highly unstable during intergenerational tr...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2024-10
Hauptverfasser:	Pellerin, David, Méreaux, Jean-Loup, Boluda, Susana, Danzi, Matt C, Dicaire, Marie-Josée, Davoine, Claire-Sophie, Genis, David, Spurdens, Guinevere, Ashton, Catherine, Hammond, Jillian M, Gerhart, Brandon J, Chelban, Viorica, Le, Phuong U, Safisamghabadi, Maryam, Yanick, Christopher, Lee, Hamin, Nageshwaran, Sathiji K, Matos-Rodrigues, Gabriel, Jaunmuktane, Zane, Petrecca, Kevin, Akbarian, Schahram, Nussenzweig, André, Usdin, Karen, Renaud, Mathilde, Bonnet, Céline, Ravenscroft, Gianina, Saporta, Mario A, Napierala, Jill S, Houlden, Henry, Deveson, Ira W, Napierala, Marek, Brice, Alexis, Molina Porcel, Laura, Seilhean, Danielle, Zuchner, Stephan, Durr, Alexandra, Brais, Bernard
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!