ArticleAmerican journal of human genetics2000
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.
Article in American journal of human genetics, 2000. 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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Who cites it
23 citing papers in PubMed, 97 citations in OpenAlex.
- Quality control at the powerhouse: mitochondrial proteostasis dysfunction and disease.Biochemical Society transactions · 2025Article
- Asymmetric apical domain states of mitochondrial Hsp60 coordinate substrate engagement and chaperonin assembly.Nature structural & molecular biology · 2024Article
- Molecular Chaperonin HSP60: Current Understanding and Future Prospects.International journal of molecular sciences · 2024Review
- Mitochondrial Protein Homeostasis and Cardiomyopathy.International journal of molecular sciences · 2022Review
- Missense Mutations of Human Hsp60: A Computational Analysis to Unveil Their Pathological Significance.Frontiers in genetics · 2020Article
- Myelin Pathology: Involvement of Molecular Chaperones and the Promise of Chaperonotherapy.Brain sciences · 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
- Article
- Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex.Frontiers in molecular biosciences · 2016Review
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- Pharmacological approaches to restore mitochondrial function.Nature reviews. Drug discovery · 2013Review
- Mechanisms of protein sorting in mitochondria.Cold Spring Harbor perspectives in biology · 2012Review
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.Human genetics · 2007Article
- Mitochondrial protein import and human health and disease.Biochimica et biophysica acta · 2007Review
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
- A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.Journal of neurology · 2004Article
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.Neurogenetics · 2004Article
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.Journal of medical genetics · 2003Review
- Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.American journal of human genetics · 2002Article
- The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.Journal of neurology, neurosurgery, and psychiatry · 2002Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous disorders causing progressive spasticity and weakness of the lower limbs. We report a large family of French descent with autosomal dominant pure HSP. We excluded genetic linkage to the known loci causing HSP and performed a genomewide search. We found evidence for linkage of the disorder to polymorphic markers on chromosome 2q24-q34: a maximum LOD score of 3. 03 was obtained for marker D2S2318. By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the upper limbs, and with severe functional handicaps.
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