ReviewCNS neuroscience & therapeutics2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Review in CNS neuroscience & therapeutics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis 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
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Neurodevelopmental disorders in childhood-onset hereditary spastic paraplegia type 7: a case series and review of literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Pooled it
- Neurodevelopmental alterations are key drivers of SPG56.Human molecular genetics · 2026Article
- Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
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.
Funding
Abstract
backgroundHereditary spastic paraplegia (HSP) is a group of rare genetic neurodegenerative disorders characterized by corticospinal tract abnormalities. But frequently, abnormalities of proteins implicated in HSP have been identified in brain disorders of childhood, raising the possibility that early brain developmental mechanism underlying HSP. RESULTS AND
conclusionsHere we summarized the clinical features of 89 HSP subtypes and found most have onset of symptoms earliest reported in infancy or early childhood. Importantly, HSP patients showed early brain developmental related phenotypes such as microcephaly, ventricular enlargement, and corpus callosum dysplasia. In addition, the expression trajectories analysis showed HSP genes were diffusely expressed across all human prenatal cortical regions and most genes enriched from post-conception weeks 8-24, periods characterized by neuro progenitor proliferation and neurogenesis. Furthermore, studies utilizing patient derived induced pluripotent stem cells (iPSCs)/organoids and mouse models have suggested that most HSP proteins play either direct or indirect roles in the development of the central nervous system. Therefore, HSP possesses a neurodevelopmental aspect and is not merely a degenerative disease, which may aid in better understanding the pathogenesis of this disease.
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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.