Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

Clinical Genetics

Volumn 70, Issue 6, 2006, Pages 490-495

  Ivanova, Nevyana ^a,b   Lofgren A ^c   Tournev, I ^a   Rousev, R ^d   Andreeva, A ^a   Jordanova, A ^b   Georgieva, V ^b   Deconinck, T ^c   Timmerman, V ^c   Kremensky, I ^b   De Jonghe, P ^c,e   Mitev, V ^a  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

^c DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^d MEDICAL UNIVERSITY PLEVEN   (Bulgaria)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Genotype correlations; Hereditary spastic paraplegia; SPG4 mutations

Indexed keywords

SPASTIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BULGARIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DISEASE COURSE; DNA EXTRACTION; ETHNIC GROUP; FAMILY HISTORY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GIPSY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHYLOGENY; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; AGE OF ONSET; BULGARIA; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; GENES, DOMINANT; GENETIC SCREENING; HUMANS; MUTATION; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33751009686     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00705.x     Document Type: Article

References (14)

1. Hazan J, Fonknechten N, Mavel D et al. Spastin, a novel AAA protein, is altered in the most frequent form of autosomal-dominant spastic paraplegia. Nat Genet 1999: 23: 296-303.
2. Molon A, Montagna P, Angelini C, Pegoraro E. Novel spastin mutations and their expression analysis in two Italian families. Eur J Hum Genet 2003: 11(9): 710-713.
3. Evans KJ, Gomes ER, Reisenweber SM, Gundersen GG, Lauring BP. Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. J Cell Biol 2005: 168(4): 599-606.
4. Schickel J, Beetz C, Frommel C et al. Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin). Neurology 2006: 66(3): 421-423.
5. McDermott C, White K, Bushby K, Shaw P. Hereditary spastic paraparesis: a review of new developments. J Neurol Neurosurg Psychiatry 2000: 69: 150-160.
6. denDunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001: 109: 121-124.
7. Hentati A, Deng HX, Zhai H et al. Novel mutations in spastin gene and absence of correlation with age at onset of symptoms. Neurology 2000: 55(9): 1388-1390.
8. Patrono C, Scarano V, Cricchi F et al. Autosomal-dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat 2005: 25(5): 506.
9. Proukakis C, Auer-Grumbach M, Wagner K et al. Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat 2003: 21(2): 170.
10. Burger J, Fonknechten N, Hoeltzenbein M et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet 2000: 8(10): 771-776.
11. Svenson IK, Ashley-Koch AE, Gaskell PC et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 2001: 68(5): 1077-1085.
12. Cooke C, Hans H, Alwine JC. Utilization of splicing elements and polyadenylation signal elements in the coupling of polyadenylation and last-intron removal. Mol Cell Biol 1999: 19(7): 4971-4979.
13. Burger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A. Autosomal-dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family. Hum Genet 1996: 98(3): 371-375.
14. 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(1): 71-78.