ArticleNeurogenetics2009
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.
Article in Neurogenetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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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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Who cites it
23 citing papers in PubMed, 48 citations in OpenAlex.
- Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.Neurology. Genetics · 2025Review
- Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant inMolecular syndromology · 2024Article
- Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.Neurogenetics · 2024Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).Human mutation · 2021Article
- Investigating cytosolic 5'-nucleotidase II family genes as candidates for neuropsychiatric disorders in Drosophila (114/150 chr).Translational psychiatry · 2021Article
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration inFrontiers in genetics · 2020Article
- 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
- Expanding the clinical relevance of the 5'-nucleotidase cN-II/NT5C2.Purinergic signalling · 2018Review
- Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors.International journal of molecular sciences · 2018Review
- Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum (London, England) · 2017Review
- NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup.BMC medical genetics · 2017Article
- Whole genome sequencing identifies a novel homozygous exon deletion in theNPJ genomic 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
- Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science (New York, N.Y.) · 2014Article
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases.Sultan Qaboos University medical journal · 2013Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity in the lower limbs. They are clinically heterogeneous, and pure forms as well as complicated forms with other accompanying clinical findings are known. HSPs are also genetically heterogeneous. We performed clinical and genetic studies in a consanguineous family with five affected members. A genome scan using 405 microsatellite markers for eight members of the family identified candidate gene loci, and subsequent fine mapping in 16 members identified the gene locus responsible for the HSP. The clinical manifestations were very early onset spastic paraplegia (SPG) accompanied by mental retardation and ocular signs. The gene locus was identified as the interval 102.05-106.64 Mbp on chromosome 10. Gene MRPL43 was analyzed in the patients. No mutation but high levels of mRNA were detected. We have mapped a novel autosomal recessive complicated form of HSP (SPG45) to a 4.6-Mbp region at 10q24.3-q25.1 with multipoint logarithm of odds scores >4.5.
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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.