Article
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Human mutation - 1 Mar 2009
Denora Paola S, Schlesinger David, Casali Carlo, Kok Fernando, Tessa Alessandra, Boukhris Amir, Azzedine Hamid, Dotti Maria Teresa, Bruno Claudio, Truchetto Jeremy, Biancheri Roberta, Fedirko Estelle, Di Rocco Maja, Bueno Clarissa, Malandrini Alessandro, Battini Roberta, Sickl Elisabeth, de Leva Maria Fulvia, Boespflug-Tanguy Odile, Silvestri Gabriella, Simonati Alessandro, Said Edith, Ferbert Andreas, Criscuolo Chiara, Heinimann Karl, Modoni Anna, Weber Peter, Palmeri Silvia, Plasilova Martina, Pauri Flavia, Cassandrini Denise, Battisti Carla, Pini Antonella, Tosetti Michela, Hauser Erwin, Masciullo Marcella, Di Fabio Roberto, Piccolo Francesca, Denis Elodie, Cioni Giovanni, Massa Roberto, Della Giustina Elvio, Calabrese Olga, Melone Marina A B, De Michele Giuseppe, Federico Antonio, Bertini Enrico, Durr Alexandra, Brockmann Knut, van der Knaap Marjo S, Zatz Mayana, Filla Alessandro, Brice Alexis, Stevanin Giovanni, Santorelli Filippo M
Abstract excerpt
Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a...
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