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000138204 0247_ $$2doi$$a10.3390/ijms161025050
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000138204 037__ $$aDZNE-2020-04526
000138204 041__ $$aEnglish
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000138204 1001_ $$0P:(DE-HGF)0$$aThal, Dietmar R$$b0$$eCorresponding author
000138204 245__ $$aAbnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
000138204 260__ $$aBasel$$bMolecular Diversity Preservation International$$c2015
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000138204 520__ $$aMutations in the SPG7 gene are the most frequent cause of autosomal recessive hereditary spastic paraplegias and spastic ataxias. Ala510Val is the most common SPG7 mutation, with a frequency of up to 1% in the general population. Here we report the clinical, genetic, and neuropathological findings in a homozygous Ala510Val SPG7 case with spastic ataxia. Neuron loss with associated gliosis was found in the inferior olivary nucleus, the dentate nucleus of the cerebellum, the substantia nigra and the basal nucleus of Meynert. Neurofilament and/or paraplegin accumulation was observed in swollen neurites in the cerebellar and cerebral cortex. This case also showed subcortical τ-pathology in an unique distribution pattern largely restricted to the brainstem. α-synuclein containing Lewy bodies (LBs) were observed in the brainstem and the cortex, compatible with a limbic pattern of Braak LB-Disease stage 4. Taken together, this case shows that the spectrum of pathologies in SPG7 can include neuron loss of the dentate nucleus and the inferior olivary nucleus as well as neuritic pathology. The progressive supranuclear palsy-like brainstem predominant pattern of τ pathology and α-synuclein containing Lewy bodies in our SPG7 cases may be either coincidental or related to SPG7 in addition to neuron loss and neuritic pathology.
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000138204 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x1
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000138204 650_7 $$2NLM Chemicals$$aSNCA protein, human
000138204 650_7 $$2NLM Chemicals$$aalpha-Synuclein
000138204 650_7 $$2NLM Chemicals$$atau Proteins
000138204 650_7 $$0EC 3.4.24.-$$2NLM Chemicals$$aMetalloendopeptidases
000138204 650_7 $$0EC 3.4.24.-$$2NLM Chemicals$$aSPG7 protein, human
000138204 650_7 $$0EC 3.6.4.-$$2NLM Chemicals$$aATPases Associated with Diverse Cellular Activities
000138204 650_2 $$2MeSH$$aATPases Associated with Diverse Cellular Activities
000138204 650_2 $$2MeSH$$aAged
000138204 650_2 $$2MeSH$$aBasal Nucleus of Meynert: pathology
000138204 650_2 $$2MeSH$$aCerebellar Nuclei: pathology
000138204 650_2 $$2MeSH$$aGene Frequency: genetics
000138204 650_2 $$2MeSH$$aGliosis: genetics
000138204 650_2 $$2MeSH$$aHumans
000138204 650_2 $$2MeSH$$aIntellectual Disability: genetics
000138204 650_2 $$2MeSH$$aIntellectual Disability: pathology
000138204 650_2 $$2MeSH$$aLewy Bodies: pathology
000138204 650_2 $$2MeSH$$aMale
000138204 650_2 $$2MeSH$$aMetalloendopeptidases: biosynthesis
000138204 650_2 $$2MeSH$$aMetalloendopeptidases: genetics
000138204 650_2 $$2MeSH$$aMuscle Spasticity: genetics
000138204 650_2 $$2MeSH$$aMuscle Spasticity: pathology
000138204 650_2 $$2MeSH$$aNeurites: metabolism
000138204 650_2 $$2MeSH$$aNeurofibrillary Tangles: pathology
000138204 650_2 $$2MeSH$$aNeurons: pathology
000138204 650_2 $$2MeSH$$aOlivary Nucleus: pathology
000138204 650_2 $$2MeSH$$aOptic Atrophy: genetics
000138204 650_2 $$2MeSH$$aOptic Atrophy: pathology
000138204 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: genetics
000138204 650_2 $$2MeSH$$aSpastic Paraplegia, Hereditary: pathology
000138204 650_2 $$2MeSH$$aSpinocerebellar Ataxias: genetics
000138204 650_2 $$2MeSH$$aSpinocerebellar Ataxias: pathology
000138204 650_2 $$2MeSH$$aSubstantia Nigra: pathology
000138204 650_2 $$2MeSH$$aalpha-Synuclein: metabolism
000138204 650_2 $$2MeSH$$atau Proteins: metabolism
000138204 7001_ $$aZüchner, Stephan$$b1
000138204 7001_ $$aGierer, Stephan$$b2
000138204 7001_ $$0P:(DE-2719)9000366$$aSchulte, Claudia$$b3$$udzne
000138204 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b4$$udzne
000138204 7001_ $$0P:(DE-2719)2812018$$aSchüle, Rebecca$$b5$$udzne
000138204 7001_ $$0P:(DE-HGF)0$$aSynofzik, Matthis$$b6
000138204 770__ $$aMechanisms of Neurodegeneration
000138204 77318 $$2Crossref$$3journal-article$$a10.3390/ijms161025050$$b : MDPI AG, 2015-10-21$$n10$$p25050-25066$$tInternational Journal of Molecular Sciences$$v16$$x1422-0067$$y2015
000138204 773__ $$0PERI:(DE-600)2019364-6$$a10.3390/ijms161025050$$gVol. 16, no. 10, p. 25050 - 25066$$n10$$p25050-25066$$q16:10<25050 - 25066$$tInternational journal of molecular sciences$$v16$$x1422-0067$$y2015
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