%0 Journal Article
%A Thal, Dietmar R
%A Züchner, Stephan
%A Gierer, Stephan
%A Schulte, Claudia
%A Schöls, Ludger
%A Schüle, Rebecca
%A Synofzik, Matthis
%T Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
%J International journal of molecular sciences
%V 16
%N 10
%@ 1422-0067
%C Basel
%I Molecular Diversity Preservation International
%M DZNE-2020-04526
%P 25050-25066
%D 2015
%X 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
%K ATPases Associated with Diverse Cellular Activities
%K Aged
%K Basal Nucleus of Meynert: pathology
%K Cerebellar Nuclei: pathology
%K Gene Frequency: genetics
%K Gliosis: genetics
%K Humans
%K Intellectual Disability: genetics
%K Intellectual Disability: pathology
%K Lewy Bodies: pathology
%K Male
%K Metalloendopeptidases: biosynthesis
%K Metalloendopeptidases: genetics
%K Muscle Spasticity: genetics
%K Muscle Spasticity: pathology
%K Neurites: metabolism
%K Neurofibrillary Tangles: pathology
%K Neurons: pathology
%K Olivary Nucleus: pathology
%K Optic Atrophy: genetics
%K Optic Atrophy: pathology
%K Spastic Paraplegia, Hereditary: genetics
%K Spastic Paraplegia, Hereditary: pathology
%K Spinocerebellar Ataxias: genetics
%K Spinocerebellar Ataxias: pathology
%K Substantia Nigra: pathology
%K alpha-Synuclein: metabolism
%K tau Proteins: metabolism
%K SNCA protein, human (NLM Chemicals)
%K alpha-Synuclein (NLM Chemicals)
%K tau Proteins (NLM Chemicals)
%K Metalloendopeptidases (NLM Chemicals)
%K SPG7 protein, human (NLM Chemicals)
%K ATPases Associated with Diverse Cellular Activities (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:26506339
%2 pmc:PMC4632789
%R 10.3390/ijms161025050
%U https://pub.dzne.de/record/138204