Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

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 al...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2022-04, Vol.145 (3), p.1029-1037
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	High-Throughput Nucleotide Sequencing Humans Kinesins - genetics Life Sciences Membrane Transport Proteins - genetics Mutation - genetics Pedigree Proteins - genetics Spastic Paraplegia, Hereditary - diagnosis Spastic Paraplegia, Hereditary - genetics Spastin - genetics Whole Exome Sequencing
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