Comparative Study
doi: 10.1002/ana.20239.
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
Affiliations
- PMID: 15455396
- DOI: 10.1002/ana.20239
Item in Clipboard
Comparative Study
A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1
Ann Neurol.
2004 Oct.
Abstract
The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower-limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q22.1-10q24.1, a locus partially overlapping the existing SPG9 locus. We have either identified a novel locus for pure recessive HSP (SPG27), or we have found the first case of allelic disorders with different mode of inheritance in HSP. If the disorders are indeed allelic, our results have reduced the SPG9 interval by 3Mb with D10S536 and D10S1758 as flanking markers.
Similar articles
-
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a. Epub 2008 May 7. Neurology. 2008. PMID: 18463364
-
Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.Neuropediatrics. 2006 Apr;37(2):59-66. doi: 10.1055/s-2006-923982. Neuropediatrics. 2006. PMID: 16773502
-
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.Neurology. 2009 Jun 2;72(22):1893-8. doi: 10.1212/WNL.0b013e3181a6086c. Epub 2009 Apr 8. Neurology. 2009. PMID: 19357379
-
[AAA ATPases and hereditary spastic paraplegia].Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):298-301. doi: 10.3760/cma.j.issn.1003-9406.2009.03.013. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009. PMID: 19504443 Review. Chinese.
-
Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.Semin Neurol. 1999;19(3):301-9. doi: 10.1055/s-2008-1040846. Semin Neurol. 1999. PMID: 12194386 Review.
Cited by
-
Hereditary spastic paraplegia.Curr Neurol Neurosci Rep. 2006 Jan;6(1):65-76. doi: 10.1007/s11910-996-0011-1. Curr Neurol Neurosci Rep. 2006. PMID: 16469273 Review.
-
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z. Cerebellum. 2017. PMID: 27271711 Review.
-
Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.Neurogenetics. 2009 Oct;10(4):325-31. doi: 10.1007/s10048-009-0191-3. Epub 2009 May 5. Neurogenetics. 2009. PMID: 19415352
-
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.Hum Genet. 2007 Nov;122(3-4):261-73. doi: 10.1007/s00439-007-0396-1. Epub 2007 Jun 28. Hum Genet. 2007. PMID: 17605047
-
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview.Front Mol Biosci. 2021 Nov 26;8:690899. doi: 10.3389/fmolb.2021.690899. eCollection 2021. Front Mol Biosci. 2021. PMID: 34901147 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
