138204 20240525120336.0 10.3390/ijms161025050 doi pmid:26506339 pmid pmc:PMC4632789 pmc 1422-0067 ISSN 1661-6596 ISSN altmetric:4683698 altmetric DZNE-2020-04526 English 540 Thal, Dietmar R P:(DE-HGF)0 0 Corresponding author Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. Basel 2015 Molecular Diversity Preservation International online Crossref MDPI AG 2015-10-21 article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1716560706_5213 PUB:(DE-HGF) ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote 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 in a homozygous Ala510Val SPG7 case with spastic ataxia. Neuron loss with associated gliosis was found in the inferior olivary nucleus, the dentate nucleus of the cerebellum, the substantia nigra and the basal nucleus of Meynert. Neurofilament and/or paraplegin accumulation was observed in swollen neurites in the cerebellar and cerebral cortex. This case also showed subcortical τ-pathology in an unique distribution pattern largely restricted to the brainstem. α-synuclein containing Lewy bodies (LBs) were observed in the brainstem and the cortex, compatible with a limbic pattern of Braak LB-Disease stage 4. Taken together, this case shows that the spectrum of pathologies in SPG7 can include neuron loss of the dentate nucleus and the inferior olivary nucleus as well as neuritic pathology. The progressive supranuclear palsy-like brainstem predominant pattern of τ pathology and α-synuclein containing Lewy bodies in our SPG7 cases may be either coincidental or related to SPG7 in addition to neuron loss and neuritic pathology. 344 - Clinical and Health Care Research (POF3-344) G:(DE-HGF)POF3-344 POF3-344 POF III 0 345 - Population Studies and Genetics (POF3-345) G:(DE-HGF)POF3-345 POF3-345 POF III 1 2015-10-21 Crossref https://creativecommons.org/licenses/by/4.0/ Dataset connected to CrossRef, PubMed, SNCA protein, human NLM Chemicals alpha-Synuclein NLM Chemicals tau Proteins NLM Chemicals Metalloendopeptidases EC 3.4.24.- NLM Chemicals SPG7 protein, human EC 3.4.24.- NLM Chemicals ATPases Associated with Diverse Cellular Activities EC 3.6.4.- NLM Chemicals ATPases Associated with Diverse Cellular Activities MeSH Aged MeSH Basal Nucleus of Meynert: pathology MeSH Cerebellar Nuclei: pathology MeSH Gene Frequency: genetics MeSH Gliosis: genetics MeSH Humans MeSH Intellectual Disability: genetics MeSH Intellectual Disability: pathology MeSH Lewy Bodies: pathology MeSH Male MeSH Metalloendopeptidases: biosynthesis MeSH Metalloendopeptidases: genetics MeSH Muscle Spasticity: genetics MeSH Muscle Spasticity: pathology MeSH Neurites: metabolism MeSH Neurofibrillary Tangles: pathology MeSH Neurons: pathology MeSH Olivary Nucleus: pathology MeSH Optic Atrophy: genetics MeSH Optic Atrophy: pathology MeSH Spastic Paraplegia, Hereditary: genetics MeSH Spastic Paraplegia, Hereditary: pathology MeSH Spinocerebellar Ataxias: genetics MeSH Spinocerebellar Ataxias: pathology MeSH Substantia Nigra: pathology MeSH alpha-Synuclein: metabolism MeSH tau Proteins: metabolism MeSH Züchner, Stephan 1 Gierer, Stephan 2 Schulte, Claudia P:(DE-2719)9000366 3 dzne Schöls, Ludger P:(DE-2719)2810795 4 dzne Schüle, Rebecca P:(DE-2719)2812018 5 dzne Synofzik, Matthis P:(DE-HGF)0 6 Mechanisms of Neurodegeneration 10.3390/ijms161025050 : MDPI AG, 2015-10-21 10 25050-25066 journal-article Crossref International Journal of Molecular Sciences 16 2015 1422-0067 10.3390/ijms161025050 Vol. 16, no. 10, p. 25050 - 25066 PERI:(DE-600)2019364-6 10 16:10<25050 - 25066 25050-25066 International journal of molecular sciences 16 2015 1422-0067 OpenAccess http://pub.dzne.de/record/138204/files/DZNE-2020-04526.pdf OpenAccess pdfa http://pub.dzne.de/record/138204/files/DZNE-2020-04526.pdf?subformat=pdfa Pubmed Central http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4632789 oai:pub.dzne.de:138204 openaire open_access VDB driver dnbdelivery Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 3 P:(DE-2719)9000366 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 4 P:(DE-2719)2810795 Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 5 P:(DE-2719)2812018 DE-HGF Gesundheit Erkrankungen des Nervensystems G:(DE-HGF)POF3-340 G:(DE-HGF)POF3-344 G:(DE-HGF)POF3 G:(DE-HGF)POF3-300 G:(DE-HGF)POF Clinical and Health Care Research 0 DE-HGF Gesundheit Erkrankungen des Nervensystems G:(DE-HGF)POF3-340 G:(DE-HGF)POF3-345 G:(DE-HGF)POF3 G:(DE-HGF)POF3-300 G:(DE-HGF)POF Population Studies and Genetics 1 2015 DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS Creative Commons Attribution CC BY (No Version) LIC:(DE-HGF)CCBYNV V:(DE-HGF) DOAJ DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search JCR StatID:(DE-HGF)0100 StatID INT J MOL SCI : 2017 DBCoverage StatID:(DE-HGF)0501 StatID DOAJ Seal DBCoverage StatID:(DE-HGF)0500 StatID DOAJ WoS StatID:(DE-HGF)0111 StatID Science Citation Index Expanded DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection IF < 5 StatID:(DE-HGF)9900 StatID OpenAccess StatID:(DE-HGF)0510 StatID Peer Review StatID:(DE-HGF)0030 StatID ASC DBCoverage StatID:(DE-HGF)1150 StatID Current Contents - Physical, Chemical and Earth Sciences DBCoverage StatID:(DE-HGF)0310 StatID NCBI Molecular Biology Database DBCoverage StatID:(DE-HGF)0300 StatID Medline DBCoverage StatID:(DE-HGF)0320 StatID PubMed Central DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List I:(DE-2719)5000055 AG Berg ; 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