Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
| Autor: | Ludger Schöls, Stephan Gierer, Stephan Züchner, Claudia Schulte, Matthis Synofzik, Rebecca Schüle, Dietmar Rudolf Thal |
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| Rok vydání: | 2015 |
| Předmět: |
Male
pathology [Spinocerebellar Ataxias] Cerebellum Pathology pathology [Spastic Paraplegia Hereditary] pathology [Optic Atrophy] genetics [Muscle Spasticity] lcsh:Chemistry genetics [Optic Atrophy] genetics [Metalloendopeptidases] Gene Frequency Inferior olivary nucleus pathology [Neurons] genetics [Spinocerebellar Ataxias] metabolism [alpha-Synuclein] tau Gliosis lcsh:QH301-705.5 Spectroscopy Neurons paraplegin education.field_of_study Paraplegin pathology [Olivary Nucleus] Metalloendopeptidases metabolism [Neurites] Neurofibrillary Tangles General Medicine Computer Science Applications Substantia Nigra medicine.anatomical_structure Cerebellar Nuclei Muscle Spasticity Cerebral cortex Basal Nucleus of Meynert ddc:540 alpha-Synuclein Spinocerebellar ataxia genetics [Gliosis] pathology [Muscle Spasticity] medicine.medical_specialty spastic paraplegia Hereditary spastic paraplegia Population SPG7 protein human tau Proteins Olivary Nucleus Biology pathology [Basal Nucleus of Meynert] pathology [Intellectual Disability] Article SPG7 Catalysis Inorganic Chemistry pathology [Cerebellar Nuclei] genetics [Spastic Paraplegia Hereditary] Intellectual Disability Neurites medicine biosynthesis [Metalloendopeptidases] Humans Spinocerebellar Ataxias SNCA protein human Physical and Theoretical Chemistry education Molecular Biology pathology [Substantia Nigra] Aged pathology [Lewy Bodies] Spastic Paraplegia Hereditary ataxia Organic Chemistry medicine.disease metabolism [tau Proteins] spastic ataxia Optic Atrophy Dentate nucleus lcsh:Biology (General) lcsh:QD1-999 nervous system neurofibrillary tangles coiled bodies genetics [Gene Frequency] ATPases Associated with Diverse Cellular Activities Lewy Bodies pathology [Neurofibrillary Tangles] genetics [Intellectual Disability] Lewy bodies |
| Zdroj: | International Journal of Molecular Sciences International journal of molecular sciences 16(10), 25050-25066 (2015). doi:10.3390/ijms161025050 Volume 16 Issue 10 Pages 25050-25066 International Journal of Molecular Sciences, Vol 16, Iss 10, Pp 25050-25066 (2015) |
| ISSN: | 1422-0067 5050-2506 |
| DOI: | 10.3390/ijms161025050 |
| Popis: | 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. ispartof: International Journal of Molecular Sciences vol:16 issue:10 pages:25050-25066 ispartof: location:Switzerland status: published |
| Databáze: | OpenAIRE |
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