Study finds a higher frequency of SPG4 related HSP in Korean patients and identifies seven new mutations.
Compared with previous studies, a higher frequency of SPG4 gene mutations in AD-HSP (7/11; 64%) was observed, suggesting that a mutation analysis for the SPG4 gene might be helpful for molecular diagnosis of AD-HSP in Korean patients.
Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases, respectively. This study investigates the contribution of these 2 genes in the occurrence of HSP in Korean patients.
Eighteen patients with uncomplicated HSP (11 AD and 7 sporadic) underwent screening for gene mutation in the SPG4 and SPG3A genes.
The study identified 8 different SPG4 mutations, 7 of which have not been reported elsewhere. Among the detected mutations were 3 missense mutations, 2 in-frame deletions, 2 frameshift mutations, and 1 splice-site mutation. No mutation was found in the SPG3A gene.
Arch Neurol. 2005 Jul;62(7):1118-21.
Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
Park SY, Ki CS, Kim HJ, Kim JW, Sung DH, Kim BJ, Lee WY.
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.