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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

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



Zusammenfassung

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 ...

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