Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

Mutations in the SPG7 gene are the most frequent cause of autosomal recessive hereditary spastic paraplegias and spastic ataxias. Ala510Val is the most common SPG7 mutation, with a frequency of up to 1% in the general population. Here we report the clinical, genetic, and neuropathological findings i...

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Detalles Bibliográficos
Publicado en:Int J Mol Sci
Main Authors: Thal, Dietmar R., Züchner, Stephan, Gierer, Stephan, Schulte, Claudia, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4632789/
https://ncbi.nlm.nih.gov/pubmed/26506339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms161025050
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