Article
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Brain : a journal of neurology - 29 Apr 2022
Méreaux Jean-Loup, Banneau Guillaume, Papin Mélanie, Coarelli Giulia, Valter Rémi, Raymond Laure, Kol Bophara, Ariste Olivier, Parodi Livia, Tissier Laurène, Mairey Mathilde, Ait Said Samia, Gautier Celia, Guillaud-Bataille Marine, Forlani Sylvie, de la Grange Pierre, Brice Alexis, Vazza Giovanni, Durr Alexandra, Leguern Eric, Stevanin Giovanni
Abstract excerpt
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. Their high clinical and genetic heterogeneity makes their diagnosis challenging. Multigene panels allow a high-throughput targeted analysis of the increasing number of genes involved using next-generation sequencing....
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