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

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

Bibliographic Details
Main Authors: Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik
Format: Article
Language:English
Published: MDPI AG 2015-10-01
Series:International Journal of Molecular Sciences
Subjects:
SPG7
neurofibrillary tangles
tau
spastic paraplegia
ataxia
spastic ataxia
coiled bodies
Lewy bodies
paraplegin
Online Access:http://www.mdpi.com/1422-0067/16/10/25050

Internet

http://www.mdpi.com/1422-0067/16/10/25050

Similar Items