A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

C. S. Ki, W. Y. Lee, D. H. Han, D. H. Sung, K. B. Lee, K. A. Lee, S. S. Cho, S. Cho, H. Hwang, K. M. Sohn, Y. J. Choi, J. W. Kim

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower extremities. Among eight loci linked with autosomal-dominant (AD)-HSP, the SPG4 locus on chromosome 2p22 accounts for about 40% of all patients. Recently, mutations in a new member of the AAA protein family, called spastin, have been identified as responsible for SPG4-linked AD-HSP. Here, we describe a novel missense mutation (c.1031T>A; I344K) in exon 7 of the SPG4 gene identified in a Korean family with typical clinical features of pure AD-HSP. The mutation affects the third amino acid of the highly conserved AAA cassette domain, which is the most fore part of the domain altered by a missense mutation reported so far. Clinical presentations of affected individuals carrying the I344K mutation were not different from those of pure AD-HSP with SPG4 mutations reported previously. However, it is noteworthy that neither urinary dysfunction nor involvement of upper extremities was noticed in this family. To our knowledge, this is the first report of genetically confirmed AD-HSP in Korea.

Original languageEnglish
Pages (from-to)473-477
Number of pages5
JournalJournal of human genetics
Volume47
Issue number9
DOIs
Publication statusPublished - 2002 Sep 18

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Ki, C. S., Lee, W. Y., Han, D. H., Sung, D. H., Lee, K. B., Lee, K. A., Cho, S. S., Cho, S., Hwang, H., Sohn, K. M., Choi, Y. J., & Kim, J. W. (2002). A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia. Journal of human genetics, 47(9), 473-477. https://doi.org/10.1007/s100380200068