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
Autores principales: Thal, Dietmar R., Züchner, Stephan, Gierer, Stephan, Schulte, Claudia, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632789/
https://www.ncbi.nlm.nih.gov/pubmed/26506339
http://dx.doi.org/10.3390/ijms161025050

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632789/
https://www.ncbi.nlm.nih.gov/pubmed/26506339
http://dx.doi.org/10.3390/ijms161025050

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