Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
| العنوان: | Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation |
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| المؤلفون: | Ludger Schöls, Stephan Gierer, Stephan Züchner, Claudia Schulte, Matthis Synofzik, Rebecca Schüle, Dietmar Rudolf Thal |
| المصدر: | 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) |
| بيانات النشر: | MDPI AG, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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 |
| وصف الملف: | application/pdf; Electronic |
| تدمد: | 1422-0067 5050-2506 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1c63a3dea9936bfc9d799e2512a728Test https://doi.org/10.3390/ijms161025050Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....9d1c63a3dea9936bfc9d799e2512a728 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14220067 50502506 |
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