SynthesisJournal of neurology2021
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Synthesis in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023Pooled it
- Vestibular rehabilitation in hereditary spastic paraplegia: a randomized pilot study.Arquivos de neuro-psiquiatria · 2026Trial
- Beyond mobility: A prospective study on diet and metabolism in hereditary spastic paraplegia.Metabolic brain disease · 2026Trial
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Expanding the clinical and mutational spectrum of hereditary spastic paraplegia type 4 in a cohort of patients from central China.Frontiers in genetics · 2026Article
- Rescue of mitochondrial and neurite pathology inBrain communications · 2026Article
- Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.Annals of clinical and translational neurology · 2026Article
- Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report.Journal of medical case reports · 2025Article
- The Neuro-Ophthalmologic Manifestations ofJournal of personalized medicine · 2025Review
- Article
- The epidemiology of hereditary spastic paraplegia and associated common mental health outcomes in England and Northern Ireland.Orphanet journal of rare diseases · 2025Article
- Expanding the phenotypic spectrum ofCurrent journal of neurology · 2025Article
- Supranuclear Vertical Gaze Palsy in Movement Disorders.Neuro-ophthalmology (Aeolus Press) · 2025Review
- Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.Journal of translational medicine · 2024Article
- Identification and analyses of exonic and copy number variants in spastic paraplegia.Scientific reports · 2024Article
- Phenotypic variability in a large kindred with spastic paraplegia associated with a noveleNeurologicalSci · 2024Article
- Article
- A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.Annals of clinical and translational neurology · 2023Article
- Biallelic DDHD2 mutations in patients with adult-onset complex hereditary spastic paraplegia.Annals of clinical and translational neurology · 2023Article
- Genetic characterization of primary lateral sclerosis.Journal of neurology · 2023Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsThe hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders. Although, several genotype-phenotype studies have carried out on HSPs, the association between genotypes and clinical phenotypes remain incomplete since most studies are small in size or restricted to a few genes. Accordingly, this study provides the systematic meta-analysis of genotype-phenotype associations in HSP. METHODS AND
resultsWe retrieved literature on genotype-phenotype associations in patients with HSP and mutated SPAST, REEP1, ATL1, SPG11, SPG15, SPG7, SPG35, SPG54, SPG5. In total, 147 studies with 13,570 HSP patients were included in our meta-analysis. The frequency of mutations in SPAST (25%) was higher than REEP1 (3%), as well as ATL1 (5%) in AD-HSP patients. As for AR-HSP patients, the rates of mutations in SPG11 (18%), SPG15 (7%) and SPG7 (13%) were higher than SPG5 (5%), as well as SPG35 (8%) and SPG54 (7%). The mean age of AD-HSP onset for ATL1 mutation-positive patients was earlier than patients with SPAST, REEP1 mutations. Also, the tendency toward younger age at AR-HSP onset for SPG35 was higher than other mutated genes. It is noteworthy that the mean age at HSP onset ranged from infancy to adulthood. As for the gender distribution, the male proportion in SPG7-HSP (90%) and REEP1-HSP (78%) was markedly high. The frequency of symptoms was varied among patients with different mutated genes. The rates of LL weakness, superficial sensory abnormalities, neuropathy, and deep sensory impairment were noticeably high in REEP1 mutations carriers. Also, in AR-HSP patients with SPG11 mutations, the presentation of symptoms including pes cavus, Neuropathy, and UL spasticity was higher.
conclusionOur comprehensive genotype-phenotype assessment of available data displays that the mean age at disease onset and particular sub-phenotypes are associated with specific mutated genes which might be beneficial for a diagnostic procedure and differentiation of the specific mutated genes phenotype among diverse forms of HSP.
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