Two novel mutations in the spastin gene of Chinese patients with hereditary spastic paraplegia

European Journal of Neurology

Volumn 18, Issue 9, 2011, Pages 1194-1196

  Fei, Q Z ^a   Tang, W G ^b   Rong, T Y ^a   Tang, H D ^a   Liu, J R ^a   Guo, Z L ^a   Fu, Y ^a   Xiao, Q ^a   Wang, X J ^a   He, S B ^b   Cao, L ^a   Chen, S D ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Zhoushan Hospital   (China)

Author keywords

Chinese; Hereditary spastic paraplegia; Spastin; SPG4

Indexed keywords

GENOMIC DNA; SPASTIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHINESE; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 80051586299     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2011.03358.x     Document Type: Article

References (12)

1. Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol 2003; 184(Suppl. 1): S106-110.
2. Harding AE. Hereditary spastic paraplegias. Semin Neurol 1993; 13: 333-336.
3. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000; 9: 637-644.
4. Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999; 23: 296-303.
5. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151-1155.
6. Sauter S, Miterski B, Klimpe S, et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 2002; 20: 127-132.
7. Shoukier M, Neesen J, Sauter SM, et al. Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia. Eur J Hum Genet 2009; 17: 187-194.
8. Depienne C, Tallaksen C, Lephay JY, et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet 2006; 43: 259-265.
9. Alvarez V, Sanchez-Ferrero E, Beetz C, et al. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. BMC Neurol 2010; 10: 89.
10. Beetz C, Nygren AO, Schickel J, et al. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006; 67: 1926-1930.
11. Erichsen AK, Inderhaug E, Mattingsdal M, Eiklid K, Tallaksen CM. Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia. Eur J Neurol 2007; 14: 809-814.
12. Orlacchio A, Gaudiello F, Totaro A, et al. A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts. Neurology 2004; 62: 1875-1878.