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...

Full description

Saved in:
Bibliographic Details
Published in:Int J Mol Sci
Main Authors: Thal, Dietmar R., Züchner, Stephan, Gierer, Stephan, Schulte, Claudia, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis
Format: Artigo
Language:Inglês
Published: MDPI 2015
Subjects:
Article
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items