This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (6)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Neurogenetics  • Alert me on articles by topic

Beisha Tang, MD; Guohua Zhao, MD; Kun Xia, PhD; Qian Pan; Wei Luo, MD, PhD; Lu Shen, MD, PhD; Zhigao Long; Heping Dai; Xiaohong Zi, MD; Hong Jiang, MD, PhD

Arch Neurol. 2004;61:49-55.

Background  Hereditary spastic paraplegia is a group of genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs. The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities protein.

Objective  To investigate the Chinese patients with hereditary spastic paraplegia for mutations in SPG4.

Methods  DNA samples from 31 unrelated patients were analyzed for mutations in SPG4 by single-strand conformation polymorphism analysis and direct sequencing. All DNA samples were screened for mutations by the polymerase chain reaction, followed by electrophoresis and silver staining. Each new variant identified was analyzed in 50 control subjects to determine whether it is a polymorphism or a mutation.

Results  Three novel mutations were detected in 4 affected individuals, including 2 missense mutations (T1258A and A1293G) and 1 deletion mutation (1668-1670delCTA).

Conclusions  To our knowledge, this is the first report of SPG4 mutations in the People's Republic of China. The percentage of involved Chinese families with autosomal dominant hereditary spastic paraplegia with an SPG4 mutation is 18% (4/22), lower than the estimated 40% linked to this locus.

From the National Laboratory of Medical Genetics of China (Drs Tang and Xia, Messrs Pan and Long, and Mrs Dai), and the Departments of Neurology, Xiangya Hospital (Drs Tang, Zhao, Luo, Shen, and Jiang) and the Third Xiangya Hospital (Dr Zi), Central South University, Hunan, People's Republic of China.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
Depienne et al.
J. Med. Genet. 2007;44:281-284.
ABSTRACT | FULL TEXT  

Clinical features of hereditary spastic paraplegia due to spastin mutation.
McDermott et al.
Neurology 2006;67:45-51.
ABSTRACT | FULL TEXT  

Mutation Analysis of SPG4 and SPG3A Genes and Its Implication in Molecular Diagnosis of Korean Patients With Hereditary Spastic Paraplegia
Park et al.
Arch Neurol 2005;62:1118-1121.
ABSTRACT | FULL TEXT