Article
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
European journal of neurology - 1 Aug 2021
Riso Vittorio, Galatolo Daniele, Barghigiani Melissa, Galosi Serena, Tessa Alessandra, Ricca Ivana, Rossi Salvatore, Caputi Caterina, Cioffi Ettore, Leuzzi Vincenzo, Casali Carlo, Santorelli Filippo M, Silvestri Gabriella
Abstract excerpt
BACKGROUND AND PURPOSE: Spinocerebellar ataxia 21 (SCA21) is a rare autosomal dominant neurodegenerative disorder caused by TMEM240 gene mutations. To date, SCA21 has been reported only in a limited number of families worldwide. Here, we describe clinical and molecular findings in five additional SCA21 patients from four unrelated families, diagnosed through a multicentre next generation sequencing-based...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.