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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Thal, Dietmar R., Züchner, Stephan, Gierer, Stephan, Schulte, Claudia, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2015
Aiheet:
Linkit: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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