Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia

Singapore Medical Journal

Volumn 54, Issue 5, 2013, Pages 251-254

  Feng, Yapei ^a   Ke, Xin ^b   Zhai, Meng ^a   Xin, Qian ^a   Gong, Yaoqin ^a   Liu, Qiji ^a  

^a SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Hospital of Weihai Economic Development Zone   (China)

Author keywords

Hereditary spastic paraplegia; Mutation; Spastin; SPG4

Indexed keywords

SPASTIN; ADENOSINE TRIPHOSPHATASE; SPAST PROTEIN, HUMAN;

ADULT; AGAR GEL ELECTROPHORESIS; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SAMPLING; CEREBROSPINAL FLUID EXAMINATION; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; DNA EXTRACTION; ELECTROMYOGRAPHY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE LOCUS; GENE SEQUENCE; GENETIC POLYMORPHISM; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERREFLEXIA; LINKAGE ANALYSIS; MALE; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SPAST GENE; SPASTICITY; WALKING DIFFICULTY; WEAKNESS; ADOLESCENT; CHILD; CHINA; DNA SEQUENCE; FAMILY HEALTH; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; INFANT; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHINA; EXONS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84878240265     PISSN: 00375675     EISSN: None     Source Type: Journal    
DOI: 10.11622/smedj.2013102     Document Type: Article

References (24)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1:1151-5.
2. Depienne C, Stevanin G, Brice A, Durr A. Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007; 20:674-80.
3. Stevanin G, Ruberg M, Brice A. Recent advances in the genetics of spastic paraplegias. Curr Neurol Neurosci Rep 2008; 8:198-210.
4. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-38.
5. Slabicki M, Theis M, Krastev DB, et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol 2010; 8:e1000408.
6. Fink JK. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006; 6:65-76.
7. Lin P, Li J, Liu Q, et al. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet 2008; 83:752-9.
8. Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 2002; 59:281-6.
9. Alvarez V, Sánchez-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. The Human Gene Mutation Database [online]. Available at: www.hgmd.cf.ac.uk/ac/index.php. Accessed November 15, 2012.
11. Beetz C, Nygren AO, Schickel J, et al. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006; 67:1926-30.
12. Depienne C, Fedirko E, Forlani S, et al. Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 2007; 44:281-4.
13. 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; 14:809-14.
14. Mitne-Neto M, Kok F, Beetz C, et al. A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree. Eur J Hum Genet 2007; 15:1276-9.
15. Solowska JM, Garbern JY, Baas PW. Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia. Hum Mol Genet 2010; 19:2767-79.
16. Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 2002; 11:153-63.
17. Park SH, Zhu PP, Parker RL, Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest 2010; 120:1097-110.
18. Mammalian Genotyping Service. Comprehensive human genetics maps (online). Available at: research. marshfieldclinic. org/genetics/GeneticResearch/compMaps. asp. Accessed November 14, 2012.
19. Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981; 44:871-83.
20. Harding AE. Hereditary spastic paraplegias. Semin Neurol 1993; 13:333-6.
21. 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.
22. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000; 9:637-44.
23. Patrono C, Casali C, Tessa A, et al. Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia. J Neurol 2002; 249:200-5.
24. Charvin D, Cifuentes-Diaz C, Fonknechten N, et al. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet 2003; 12:71-8.