ArticleJournal of medical genetics2000
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.
Article in Journal of medical genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it, 133 citations in OpenAlex.
- Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.Journal of neurology · 2021Pooled it
- Modeling spastic paraplegia 4 with corticospinal motor neuron-enriched cortical organoids reveals genotype-phenotype and HDAC6-targetable pathology.Cell reports · 2026Article
- Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models.Brain : a journal of neurology · 2024Article
- RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.American journal of human genetics · 2023Article
- A NovelCase reports in genetics · 2023Article
- FBXL17/spastin axis as a novel therapeutic target of hereditary spastic paraplegia.Cell & bioscience · 2022Article
- Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study.Journal of neurology · 2022Article
- Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Frontiers in molecular biosciences · 2021Review
- Spastin recovery in hereditary spastic paraplegia by preventing neddylation-dependent degradation.Life science alliance · 2020Article
- Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.Scientific reports · 2019Article
- The AAA + ATPase Thorase is neuroprotective against ischemic injury.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2019Article
- Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Brain : a journal of neurology · 2018Article
- Truncating mutations ofMolecular biology of the cell · 2017Article
- Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Frontiers in biology · 2016Article
- Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.Journal of human genetics · 2016Article
- Article
- Hereditary spastic paraplegia SPG4: what is known and not known about the disease.Brain : a journal of neurology · 2015Review
- Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.Journal of neurology · 2015Article
- Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology.Human genetics · 2015Review
- Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.Journal of clinical neurology (Seoul, Korea) · 2014Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary spastic paraparesis is a genetically heterogeneous condition. Recently, mutations in the spastin gene were reported in families linked to the common SPG4 locus on chromosome 2p21-22.
objectivesTo study a population of patients with hereditary spastic paraparesis for mutations in the spastin gene (SPG4) on chromosome 2p21-22.
methodsDNA from 32 patients (12 from families known to be linked to SPG4) was analysed for mutations in the spastin gene by single strand conformational polymorphism analysis and sequencing. All patients were also examined clinically.
resultsThirteen SPG4 mutations were identified, 11 of which are novel. These mutations include missense, nonsense, frameshift, and splice site mutations, the majority of which affect the AAA cassette. We also describe a nucleotide substitution outside this conserved region which appears to behave as a recessive mutation.
conclusionsRecurrent mutations in the spastin gene are uncommon. This reduces the ease of mutation detection as a part of the diagnostic work up of patients with hereditary spastic paraparesis. Our findings have important implications for the presumed function of spastin and schemes for mutation detection in HSP patients.
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