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

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 autosom...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2008-03, Vol.131 (3), p.772-784
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age of Onset Base Sequence Brain Brain - pathology Child Child, Preschool Cognition Disorders Cognition Disorders - genetics Cognition Disorders - pathology Corpus Callosum Corpus Callosum - pathology DNA Mutational Analysis DNA Mutational Analysis - methods Female Genes, Recessive Genetic Linkage Genotype Humans Intellectual Disability - genetics Intellectual Disability - pathology Life Sciences Linkage (Genetics) lower motor neuron degeneration Magnetic Resonance Imaging Male Mental Retardation Molecular Sequence Data Motor Neuron Disease Motor Neuron Disease - genetics Motor Neuron Disease - pathology Mutation Neurons and Cognition Pedigree Phenotype Proteins Proteins - genetics Spastic Paraplegia, Hereditary Spastic Paraplegia, Hereditary - genetics Spastic Paraplegia, Hereditary - pathology Spastic Paraplegia, Hereditary - psychology spastic paraplegias SPG11 thin corpus callosum
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