ReviewAmerican journal of human genetics2002
Is the transportation highway the right road for hereditary spastic paraplegia?
Review in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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
44 citing papers in PubMed, 126 citations in OpenAlex.
- Role of Oxidative Stress in Human Neurodegenerative Pathologies: Lessons from theCurrent topics in medicinal chemistry · 2026Review
- Expression Pattern of the AB1-Gal4 Driver inInternational journal of molecular sciences · 2025Article
- A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Monitoring Axonal Degeneration in Human Pluripotent Stem Cell Models of Hereditary Spastic Paraplegias.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Loss ofInternational journal of molecular sciences · 2021Article
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Identification of a Mutation in SPG11 in an Iranian Patient with Spastic Paraplegia and Ears of the Lynx Sign.Journal of molecular neuroscience : MN · 2020Article
- Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration.Cell death & disease · 2018Article
- The RiceFrontiers in plant science · 2018Article
- Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Frontiers in biology · 2016Article
- Genetic and phenotypic characterization of complex hereditary spastic paraplegia.Brain : a journal of neurology · 2016Article
- SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.Brain : a journal of neurology · 2016Article
- Article
- Control of mitochondrial integrity in ageing and disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2014Review
- Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.Sultan Qaboos University medical journal · 2013Article
- Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia.PloS one · 2012Article
- SPG20 protein spartin associates with cardiolipin via its plant-related senescence domain and regulates mitochondrial Ca2+ homeostasis.PloS one · 2011Article
- Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid droplets.BMC biology · 2010Article
- Axonal transport defects in neurodegenerative diseases.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009Review
- Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.Neurogenetics · 2009Article
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The term "hereditary spastic paraplegia" (HSP) refers to a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity of the lower extremities. The condition arises because of degeneration of the longest motor and sensory axons on the spinal cord, which appear to be most sensitive to the underlying mutations. The marked genetic heterogeneity in HSP, with 20 loci chromosomally mapped and eight genes now identified, suggests that a number of defective cellular processes may be shown to result in the disease. Although previous studies have suggested a mitochondrial basis for at least one form of the disease, a mechanism common to a number of the other genes mutated in HSP has remained elusive until now. The identification of the most recent genes for the condition suggests that aberrant cellular-trafficking dynamics may be a common process responsible for the specific pattern of neurodegeneration seen in HSP.
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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.