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ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype |
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| Authors: | Nanetti Lorenzo Sarto Elisa Castaldo Anna Magri Stefania Mongelli Alessia Rossi Sebastiano Davide Canafoglia Laura Grisoli Marina Malaguti Chiara Rivieri Francesca D’Amico Maria Chiara Di Bella Daniela Franceschetti Silvana Mariotti Caterina Taroni Franco |
| Affiliation: | 1.Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy ;2.Unit of Neurophysiopathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy ;3.Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy ;4.Unit of Neurology, Santa Chiara Hospital, Trento, Italy ;5.Medical Genetic Service, Santa Chiara Hospital, Trento, Italy ; |
| Abstract: | Journal of Neurology - Autosomal recessive cerebellar ataxia type 3 (ARCA3) is a rare inherited disorder caused by mutations in the ANO10 gene. The disease is characterized by slowly progressive... |
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