Possible anticipation in hereditary spastic paraplegia type 4 (SPG4) - PubMed (original) (raw)
Case Reports
Possible anticipation in hereditary spastic paraplegia type 4 (SPG4)
P Leema Reddy et al. Can J Neurol Sci. 2007 May.
Abstract
Objective: We report a multigenerational family with uncomplicated hereditary spastic paraplegia type 4 and apparent anticipation. Genetic analysis of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encoding the spastin protein. We hypothesized that this deletion mutation may be dynamic and variability in the size of the deletion could account for the anticipation.
Methods: Clinical and genetic analysis of this family and the deletion mutation.
Results: In this family, the age of onset, which ranges from 3 to 50 years shows an average decrease in the age of onset of 21.8 years per transmission over three generations. Genetic analysis of multiple family members indicates that all affected members carry the same c.1340_1344delTATAA mutation and that it is not dynamic.
Conclusion: In this family, other molecular mechanisms may contribute to development of anticipation.
Similar articles
- Hereditary spastic paraplegia caused by mutations in the SPG4 gene.
Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A. Bürger J, et al. Eur J Hum Genet. 2000 Oct;8(10):771-6. doi: 10.1038/sj.ejhg.5200528. Eur J Hum Genet. 2000. PMID: 11039577 - Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.
Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH. Proukakis C, et al. J Neurol Sci. 2002 Sep 15;201(1-2):65-9. doi: 10.1016/s0022-510x(02)00192-2. J Neurol Sci. 2002. PMID: 12163196 - Hereditary spastic paraplegias.
Lau KK, Ching CK, Mak CM, Chan YW. Lau KK, et al. Hong Kong Med J. 2009 Jun;15(3):217-20. Hong Kong Med J. 2009. PMID: 19494379 - [From gene to disease; spastin and hereditary spastic paraparesis].
Bruyn RP, Frants RR. Bruyn RP, et al. Ned Tijdschr Geneeskd. 2004 Jan 24;148(4):179-81. Ned Tijdschr Geneeskd. 2004. PMID: 14974310 Review. Dutch. - Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P. Loureiro JL, et al. JAMA Neurol. 2013 Apr;70(4):481-7. doi: 10.1001/jamaneurol.2013.1956. JAMA Neurol. 2013. PMID: 23400676 Review.
Cited by
- The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
Wang C, Zhang YJ, Xu CH, Li D, Liu ZJ, Wu Y. Wang C, et al. Mol Genet Genomic Med. 2021 May;9(5):e1627. doi: 10.1002/mgg3.1627. Epub 2021 Feb 27. Mol Genet Genomic Med. 2021. PMID: 33638609 Free PMC article. - Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
Fink JK. Fink JK. Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. Acta Neuropathol. 2013. PMID: 23897027 Free PMC article. Review. - Copy Number Variations in Hereditary Spastic Paraplegia-Related Genes: Evaluation of an Iranian Hereditary Spastic Paraplegia Cohort and Literature Review.
Ghasemi A, Sadr Z, Babanejad M, Rohani M, Alavi A. Ghasemi A, et al. Mol Syndromol. 2023 Dec;14(6):477-484. doi: 10.1159/000531507. Epub 2023 Jul 7. Mol Syndromol. 2023. PMID: 38058755 Free PMC article.