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| Home > Publications Database > Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. > print |
| Home > Publications Database > Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. > print |
| 001 | 138204 | ||
| 005 | 20240525120336.0 | ||
| 024 | 7 | _ | |a 10.3390/ijms161025050 |2 doi |
| 024 | 7 | _ | |a pmid:26506339 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC4632789 |2 pmc |
| 024 | 7 | _ | |a 1422-0067 |2 ISSN |
| 024 | 7 | _ | |a 1661-6596 |2 ISSN |
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| 037 | _ | _ | |a DZNE-2020-04526 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 540 |
| 100 | 1 | _ | |a Thal, Dietmar R |0 P:(DE-HGF)0 |b 0 |e Corresponding author |
| 245 | _ | _ | |a Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. |
| 260 | _ | _ | |a Basel |c 2015 |b Molecular Diversity Preservation International |
| 264 | _ | 1 | |3 online |2 Crossref |b MDPI AG |c 2015-10-21 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1716560706_5213 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 0 |
| 536 | _ | _ | |a 345 - Population Studies and Genetics (POF3-345) |0 G:(DE-HGF)POF3-345 |c POF3-345 |f POF III |x 1 |
| 542 | _ | _ | |i 2015-10-21 |2 Crossref |u https://creativecommons.org/licenses/by/4.0/ |
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| 650 | _ | 7 | |a SNCA protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a alpha-Synuclein |2 NLM Chemicals |
| 650 | _ | 7 | |a tau Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a Metalloendopeptidases |0 EC 3.4.24.- |2 NLM Chemicals |
| 650 | _ | 7 | |a SPG7 protein, human |0 EC 3.4.24.- |2 NLM Chemicals |
| 650 | _ | 7 | |a ATPases Associated with Diverse Cellular Activities |0 EC 3.6.4.- |2 NLM Chemicals |
| 650 | _ | 2 | |a ATPases Associated with Diverse Cellular Activities |2 MeSH |
| 650 | _ | 2 | |a Aged |2 MeSH |
| 650 | _ | 2 | |a Basal Nucleus of Meynert: pathology |2 MeSH |
| 650 | _ | 2 | |a Cerebellar Nuclei: pathology |2 MeSH |
| 650 | _ | 2 | |a Gene Frequency: genetics |2 MeSH |
| 650 | _ | 2 | |a Gliosis: genetics |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Intellectual Disability: genetics |2 MeSH |
| 650 | _ | 2 | |a Intellectual Disability: pathology |2 MeSH |
| 650 | _ | 2 | |a Lewy Bodies: pathology |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Metalloendopeptidases: biosynthesis |2 MeSH |
| 650 | _ | 2 | |a Metalloendopeptidases: genetics |2 MeSH |
| 650 | _ | 2 | |a Muscle Spasticity: genetics |2 MeSH |
| 650 | _ | 2 | |a Muscle Spasticity: pathology |2 MeSH |
| 650 | _ | 2 | |a Neurites: metabolism |2 MeSH |
| 650 | _ | 2 | |a Neurofibrillary Tangles: pathology |2 MeSH |
| 650 | _ | 2 | |a Neurons: pathology |2 MeSH |
| 650 | _ | 2 | |a Olivary Nucleus: pathology |2 MeSH |
| 650 | _ | 2 | |a Optic Atrophy: genetics |2 MeSH |
| 650 | _ | 2 | |a Optic Atrophy: pathology |2 MeSH |
| 650 | _ | 2 | |a Spastic Paraplegia, Hereditary: genetics |2 MeSH |
| 650 | _ | 2 | |a Spastic Paraplegia, Hereditary: pathology |2 MeSH |
| 650 | _ | 2 | |a Spinocerebellar Ataxias: genetics |2 MeSH |
| 650 | _ | 2 | |a Spinocerebellar Ataxias: pathology |2 MeSH |
| 650 | _ | 2 | |a Substantia Nigra: pathology |2 MeSH |
| 650 | _ | 2 | |a alpha-Synuclein: metabolism |2 MeSH |
| 650 | _ | 2 | |a tau Proteins: metabolism |2 MeSH |
| 700 | 1 | _ | |a Züchner, Stephan |b 1 |
| 700 | 1 | _ | |a Gierer, Stephan |b 2 |
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| 700 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-HGF)0 |b 6 |
| 770 | _ | _ | |a Mechanisms of Neurodegeneration |
| 773 | 1 | 8 | |a 10.3390/ijms161025050 |b : MDPI AG, 2015-10-21 |n 10 |p 25050-25066 |3 journal-article |2 Crossref |t International Journal of Molecular Sciences |v 16 |y 2015 |x 1422-0067 |
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