ReviewInternational journal of molecular sciences2022
Hereditary Spastic Paraplegia: An Update.
Review in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 3 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
108 citing papers in PubMed, 3 syntheses or guidelines pooled it, 143 citations in OpenAlex.
- Outcome measures of instrumented gait analysis in hereditary spastic paraplegia: a systematic review.Journal of neuroengineering and rehabilitation · 2025Pooled it
- The Intersection of Genetics and Neuroimaging: A Systematic Review of Imaging Genetics in Neurological Disease for Personalized Treatment.Journal of molecular neuroscience : MN · 2025Pooled it
- Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Pooled it
- Vestibular rehabilitation in hereditary spastic paraplegia: a randomized pilot study.Arquivos de neuro-psiquiatria · 2026Trial
- "Ears of the lynx" sign on MRI: A radiologic clue to hereditary spastic paraplegia.Radiology case reports · 2026Article
- Expanding the adult spectrum of TUBB4A disease: a spasticity-tremor phenotype with network imaging correlates.Neurogenetics · 2026Article
- Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants.Neurogenetics · 2026Article
- Dilated Cardiomyopathy in a Woman With SPG4-Associated Hereditary Spastic Paraplegia.JACC. Case reports · 2026Article
- Hereditary Congenital Cataract With Spastic Paraplegia Associated With a Missense PAX6 Variant (p.Arg26Trp).Cureus · 2026Article
- Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.Journal of inherited metabolic disease · 2026Article
- Hereditary spastic paraplegia in three siblings with distinct genetic mutations.The Journal of international medical research · 2026Article
- A GJA1 Variant Triggers Earlier SPG4 Onset by Destabilizing Deubiquitinase VCPIP1 to Lower SPASTIN Levels.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Review
- Hereditary spastic paraplegia (HSP) gene 11 (Spg11) attenuates lipid accumulation in myeloid cells and neuroinflammation in the midbrain without affecting α-synuclein pathology.Journal of neuroinflammation · 2026Article
- Coenzyme Q4 gene compound heterozygous mutations cause hereditary spastic paraplegias: a case report.Journal of medical case reports · 2026Article
- "Effects of robot-assisted gait training combined with traditional treatment in hereditary spastic paraplegia: An observational pilot cohort study".Scientific reports · 2026Observational
- Early-onset hereditary spastic paraplegia type 56 (SPG56): clinical-molecular correlations and functional validation of CYP2U1 variants.BMC medical genomics · 2026Article
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review.BMC medical genomics · 2026Review
- Dystonia as an early and prominent feature in a patient with CYP2U1 gene mutation: expanding the phenotype of SPG56-a case report.Orphanet journal of rare diseases · 2026Article
48 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised based on inheritance, the phenotypic characters, and the mode of molecular pathophysiology, with frequent degeneration in the axon of cervical and thoracic spinal cord's lateral region, comprising the corticospinal routes. The prevalence ranges from 0.1 to 9.6 subjects per 100,000 reported around the globe. Though modern medical interventions help recognize and manage the disorder, the symptomatic measures remain below satisfaction. The present review assimilates the available data on HSP and lists down the chromosomes involved in its pathophysiology and the mutations observed in the respective genes on the chromosomes. It also sheds light on the treatment available along with the oral/intrathecal medications, physical therapies, and surgical interventions. Finally, we have discussed the related diagnostic techniques as well as the linked pharmacogenomics studies under future perspectives.
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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.