Article
Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.
Brain : a journal of neurology - 1 Jun 2016
Denora Paola S, Smets Katrien, Zolfanelli Federica, Ceuterick-de Groote Chantal, Casali Carlo, Deconinck Tine, Sieben Anne, Gonzales Michael, Zuchner Stephan, Darios Frédéric, Peeters Dirk, Brice Alexis, Malandrini Alessandro, De Jonghe Peter, Santorelli Filippo M, Stevanin Giovanni, Martin Jean-Jacques, El Hachimi Khalid H
Abstract excerpt
The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype is, in most cases, characterized by a progressive spasticity with neuropathy, cognitive impairment and a thin...
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