ArticleBMC neurology2022
An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.
Article in BMC neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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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.
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Who cites it
13 citing papers in PubMed.
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance.Neurogenetics · 2026Article
- Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.Journal of neurology · 2026Article
- Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026Review
- Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.Clinical genetics · 2025Article
- The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.Orphanet journal of rare diseases · 2025Article
- Decoding the genetic blueprints of neurological disorders: disease mechanisms and breakthrough gene therapies.Frontiers in neurology · 2025Review
- Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.SAGE open medicine · 2024Review
- Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.International journal of molecular sciences · 2023Article
- Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.Genes · 2023Article
- Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.Neurogenetics · 2023Review
- Clinical analysis in patients withFrontiers in neurology · 2023Article
- The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.Frontiers in neurology · 2023Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
backgroundHereditary spastic paraplegias (HSPs) are progressively debilitating neurodegenerative disorders that follow heterogenous patterns of Mendelian inheritance. Available epidemiological evidence provides limited incidence and prevalence data, especially at the genetic subtype level, preventing a realistic estimation of the true social burden of the disease. The objectives of this study were to (1) review the literature on epidemiology of HSPs; and (2) develop an epidemiological model of the prevalence of HSP, focusing on four common HSP genetic subtypes at the country and region-level.
methodsA model was constructed estimating the incidence at birth, survival, and prevalence of four genetic subtypes of HSP based on the most appropriate published literature. The key model parameters were assessed by HSP clinical experts, who provided feedback on the validity of assumptions. A model was then finalized and validated through comparison of outputs against available evidence. The global, regional, and national prevalence and patient pool were calculated per geographic region and per genetic subtype.
resultsThe HSP global prevalence was estimated to be 3.6 per 100,000 for all HSP forms, whilst the estimated global prevalence per genetic subtype was 0.90 (SPG4), 0.22 (SPG7), 0.34 (SPG11), and 0.13 (SPG15), respectively. This equates to an estimated 3365 (SPG4) and 872 (SPG11) symptomatic patients, respectively, in the USA.
conclusionsThis is the first epidemiological model of HSP prevalence at the genetic subtype-level reported at multiple geographic levels. This study offers additional data to better capture the burden of illness due to mutations in common genes causing HSP, that can inform public health policy and healthcare service planning, especially in regions with higher estimated prevalence of HSP.
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