ReviewFrontiers in neurology2018
Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.
Review in Frontiers in neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed, 30 citations in OpenAlex.
- Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia.Annals of clinical and translational neurology · 2026Observational
- Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.Translational neurodegeneration · 2025Article
- The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN): Clinical Trial Readiness for Hereditary Spastic Paraplegia.Neurology. Genetics · 2025Article
- Review
- Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.Molecular syndromology · 2023Article
- AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.Acta neuropathologica · 2023Article
- The Role of Spastin in Axon Biology.Frontiers in cell and developmental biology · 2022Review
- Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.PloS one · 2021Article
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy.Scientific reports · 2020Article
- Genetic Modifiers and Rare Mendelian Disease.Genes · 2020Review
- Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4).Journal of neurology · 2020Article
- Prot2HG: a database of protein domains mapped to the human genome.Database : the journal of biological databases and curation · 2020Article
- A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.Annals of clinical and translational neurology · 2020Article
- SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.Journal of human genetics · 2019Article
- Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.International journal of molecular sciences · 2019Review
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.American journal of human genetics · 2019Article
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 2 institutions in 1 country.
Funding
Abstract
Hereditary Spastic Paraplegia is an extraordinarily heterogeneous disease caused by over 50 Mendelian genes. Recent applications of next-generation sequencing, large scale data analysis, and data sharing/matchmaking, have discovered a quickly expanding set of additional HSP genes. Since most recently discovered HSP genes are rare causes of the disease, there is a growing concern of a persisting diagnostic gap, estimated at 30-40%, and even higher for sporadic cases. This missing heritability may not be fully closed by classic Mendelian mutations in protein coding genes. Here we show strategies and published examples of broadening areas of attention for Mendelian and non-Mendelian causes of HSP. We suggest a more inclusive perspective on the potential final architecture of HSP genomics. Efforts to narrow the heritability gap will ultimately lead to more precise and comprehensive genetic diagnoses, which is the starting point for emerging, highly specific gene therapies.
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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.