ReviewBrain sciences2018
JASPAC: Japan Spastic Paraplegia Research Consortium.
Review in Brain sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- The cognitive profile of hereditary spastic paraplegia: a systematic review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Pooled it
- A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.Neurogenetics · 2025Pooled it
- Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.Human genomics · 2026Review
- Comprehensive Characterization of Spastic Paraplegia in Korean Patients: A Single-Center Experience over Two Decades.Yonsei medical journal · 2026Article
- Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.Internal medicine (Tokyo, Japan) · 2025Article
- Article
- Role of glial cells in motor neuron degeneration in hereditary spastic paraplegias.Frontiers in cellular neuroscience · 2025Review
- AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.Neurobiology of disease · 2024Article
- Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.Journal of human genetics · 2023Article
- Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Article
- The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.Brain : a journal of neurology · 2023Article
- Article
- Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.Frontiers in neurology · 2023Article
- Ubap1 knock-in mice reproduced the phenotype of SPG80.Journal of human genetics · 2022Article
- Selenoprotein I (selenoi) as a critical enzyme in the central nervous system.Archives of biochemistry and biophysics · 2022Article
- Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.Cells · 2022Article
- Hereditary Spastic Paraplegia: An Update.International journal of molecular sciences · 2022Review
- Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.Journal of human genetics · 2022Article
- An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.BMC neurology · 2022Article
- A Nepalese family with an REEP2 mutation: clinical and genetic study.Journal of human genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes. The frequency of HSPs is estimated to be 10⁻100/1,000,000. With this background, the Japanese research group "Japan Spastic Paraplegia Research Consortium: JASPAC" was organized in 2006 to elucidate the molecular epidemiologies of HSPs in Japan and the molecular pathologies of HSPs. To date, the JASPAC has collected 714 HSP families and analyzed 488 index patients. We found 279 pathogenic variants or probable pathogenic variants of causative genes in the 488 HSP patients. According to our results, we found 178 families with autosomal dominant patients (65%), and 101 with autosomal recessive and sporadic patients (48%). We found 119 patients with SPG4, 17 with SPG3A, 15 with SPG31, 13 with SPG11, and 11 with SPG10. Other HSP genes were the cause in less than five patients. On the other hand, we could not find causative genes in 35% of the autosomal dominant patients, or 52% of the autosomal recessive and sporadic patients. We are now trying to find new causative genes and elucidate the molecular mechanisms underlying HSPs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.