ReviewCurrent neurology and neuroscience reports2008
Recent advances in the genetics of spastic paraplegias.
Review in Current neurology and neuroscience reports, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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.
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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
21 citing papers in PubMed, 72 citations in OpenAlex.
- Unravelling axonal transcriptional landscapes: insights from induced pluripotent stem cell-derived cortical neurons and implications for motor neuron degeneration.Open biology · 2025Article
- FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.Cell & bioscience · 2022Article
- Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.Human molecular genetics · 2019Article
- The single nucleotide polymorphism site of aquaporin-4 gene in patients with neuromyelitis optica.Experimental and therapeutic medicine · 2017Article
- Article
- Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.Human genetics · 2015Review
- Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.American journal of human genetics · 2014Article
- Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.American journal of human genetics · 2013Article
- Axonal transport deficits and neurodegenerative diseases.Nature reviews. Neuroscience · 2013Review
- Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.American journal of human genetics · 2013Article
- Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.American journal of human genetics · 2012Article
- KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.European journal of human genetics : EJHG · 2012Article
- An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Human mutation · 2012Article
- Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.Journal of neurology · 2012Article
- Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.BMC neurology · 2010Article
- A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.Neurogenetics · 2010Article
- Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons.Neurogenetics · 2010Article
- A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia.PLoS biology · 2010Article
- Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.Nature genetics · 2010Article
- Complex phenotype in an Italian family with a novel mutation in SPG3A.Journal of neurology · 2010Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous mendelian disorders characterized by weakness and spasticity in the lower limbs associated with additional neurologic signs in "complex" or "complicated" forms. Major advances have been made during the past two decades in our understanding of their molecular bases. The mapping of 34 genes (17 of which have been identified) involved in this clinically diverse group of disorders has highlighted their great genetic heterogeneity. From the combined genetic and clinical information obtained, a new classification is now emerging that will help to better diagnose this condition, evaluate disease progression, guide follow-up, and permit genetic counselling. Evidence is now accumulating that at least part of the physiopathology results from abnormal intracellular trafficking, as well as from altered cell recognition and signaling, oligodendroglial dysfunction, mitochondrial defects, and impaired cholesterol and/or neurosteroid metabolism.
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What OpenQuestion holds
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.