Article
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.
Brain : a journal of neurology - 1 Mar 2008
Stevanin Giovanni, Azzedine Hamid, Denora Paola, Boukhris Amir, Tazir Meriem, Lossos Alexander, Rosa Alberto Luis, Lerer Israela, Hamri Abdelmadjid, Alegria Paulo, Loureiro José, Tada Masayoshi, Hannequin Didier, Anheim Mathieu, Goizet Cyril, Gonzalez-Martinez Victoria, Le Ber Isabelle, Forlani Sylvie, Iwabuchi Kiyoshi, Meiner Vardiela, Uyanik Goekhan, Erichsen Anne Kjersti, Feki Imed, Pasquier Florence, Belarbi Soreya, Cruz Vitor T, Depienne Christel, Truchetto Jeremy, Garrigues Guillaume, Tallaksen Chantal, Tranchant Christine, Nishizawa Masatoyo, Vale José, Coutinho Paula, Santorelli Filippo M, Mhiri Chokri, Brice Alexis, Durr Alexandra
Abstract excerpt
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity associated, in complicated forms, with additional neurological signs. We have analysed a large series of index patients (n = 76) with this condition, either from families with an autosomal recessive inheritance (n = 43) or isolated patients (n = 33), for mutations in the recently identified SPG11...
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