Article
Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration.
Neurobiology of disease - 1 Jun 2017
Branchu Julien, Boutry Maxime, Sourd Laura, Depp Marine, Leone Céline, Corriger Alexandrine, Vallucci Maeva, Esteves Typhaine, Matusiak Raphaël, Dumont Magali, Muriel Marie-Paule, Santorelli Filippo M, Brice Alexis, El Hachimi Khalid Hamid, Stevanin Giovanni, Darios Frédéric
Abstract excerpt
Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progressive juvenile-onset amyotrophic lateral sclerosis (ALS). To elucidate the physiopathological mechanisms underlying...
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