TY  - JOUR
AU  - Thal, Dietmar R
AU  - Züchner, Stephan
AU  - Gierer, Stephan
AU  - Schulte, Claudia
AU  - Schöls, Ludger
AU  - Schüle, Rebecca
AU  - Synofzik, Matthis
TI  - Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
JO  - International journal of molecular sciences
VL  - 16
IS  - 10
SN  - 1422-0067
CY  - Basel
PB  - Molecular Diversity Preservation International
M1  - DZNE-2020-04526
SP  - 25050-25066
PY  - 2015
AB  - 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
KW  - ATPases Associated with Diverse Cellular Activities
KW  - Aged
KW  - Basal Nucleus of Meynert: pathology
KW  - Cerebellar Nuclei: pathology
KW  - Gene Frequency: genetics
KW  - Gliosis: genetics
KW  - Humans
KW  - Intellectual Disability: genetics
KW  - Intellectual Disability: pathology
KW  - Lewy Bodies: pathology
KW  - Male
KW  - Metalloendopeptidases: biosynthesis
KW  - Metalloendopeptidases: genetics
KW  - Muscle Spasticity: genetics
KW  - Muscle Spasticity: pathology
KW  - Neurites: metabolism
KW  - Neurofibrillary Tangles: pathology
KW  - Neurons: pathology
KW  - Olivary Nucleus: pathology
KW  - Optic Atrophy: genetics
KW  - Optic Atrophy: pathology
KW  - Spastic Paraplegia, Hereditary: genetics
KW  - Spastic Paraplegia, Hereditary: pathology
KW  - Spinocerebellar Ataxias: genetics
KW  - Spinocerebellar Ataxias: pathology
KW  - Substantia Nigra: pathology
KW  - alpha-Synuclein: metabolism
KW  - tau Proteins: metabolism
KW  - SNCA protein, human (NLM Chemicals)
KW  - alpha-Synuclein (NLM Chemicals)
KW  - tau Proteins (NLM Chemicals)
KW  - Metalloendopeptidases (NLM Chemicals)
KW  - SPG7 protein, human (NLM Chemicals)
KW  - ATPases Associated with Diverse Cellular Activities (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:26506339
C2  - pmc:PMC4632789
DO  - DOI:10.3390/ijms161025050
UR  - https://pub.dzne.de/record/138204
ER  -