ArticleInternational journal of molecular sciences2015
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
Article in International journal of molecular sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- The Neuro-Ophthalmologic Manifestations ofJournal of personalized medicine · 2025Review
- Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Clinical genetics · 2025Article
- Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.Frontiers in integrative neuroscience · 2023Article
- Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration.Neural regeneration research · 2022Review
- Classification of diseases with accumulation of Tau protein.Neuropathology and applied neurobiology · 2022Article
- Tau Pathology Associated With Parkinsonism and Mutation of Mitochondrial DNA Helicase GeneNeurology. Genetics · 2021Article
- A NovelFrontiers in genetics · 2021Article
- Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits inFrontiers in neuroscience · 2020Article
- Quantitative proteomics reveal the alterations in the spinal cord after myocardial ischemia‑reperfusion injury in rats.International journal of molecular medicine · 2019Article
- Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7.Annals of clinical and translational neurology · 2019Article
- Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients withNeurology · 2019Article
- Novel genotype-phenotype and MRI correlations in a large cohort of patients withNeurology. Genetics · 2018Article
- Interactions of pathological proteins in neurodegenerative diseases.Acta neuropathologica · 2017Review
- [Ataxias and hereditary spastic paraplegias].Der Nervenarzt · 2017Review
- Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision Medicine.International journal of molecular sciences · 2016Review
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
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.
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