High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Neurology

Volumn 67, Issue 11, 2006, Pages 1926-1930

  Beetz, C ^a   Nygren, A O H ^b   Schickel, J ^a   Auer Grumbach, M ^c   Burk K ^d   Heide, G ^a   Kassubek, J ^j   Klimpe, S ^e   Klopstock, T ^f   Kreuz, F ^g   Otto, S ^h   Schule R ⁱ   Schols L ⁱ   Sperfeld, A D ^j   Witte, O W ^a   Deufel, T ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b MRC Holland   (Netherlands)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g KLINIKUM CHEMNITZ   (Germany)

^h RUHR UNIVERSITY BOCHUM   (Germany)

ⁱ UNIVERSITY OF TÜBINGEN   (Germany)

^j UNIVERSITY OF ULM   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATLASTIN; COMPLEMENTARY DNA; GENE PRODUCT; SPASTIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME ABERRATION; CHROMOSOME MUTATION; CHROMOSOME SEGREGATION; CONTROLLED STUDY; DNA DETERMINATION; FAMILY ASSESSMENT; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE PROBE; GENE TARGETING; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC STABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; VALIDATION PROCESS;

EID: 33845696394     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000244413.49258.f5     Document Type: Article

References (30)

1. Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 2003;40:81-86.
2. Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001;29:326-331.
3. 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.
4. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000;9:637-644.
5. Lindsey JC, Lusher ME, McDermott CJ, et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 2000;37:759-765.
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. Sauter SM, Engel W, Neumann LM, et al. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 2004;23:98.
8. Durr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 2004;61:1867-1872.
9. Namekawa M, Ribai P, Nelson I, et al. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 2006;66:112-114.
10. Burger J, Fonknechten N, Hoeltzenbein M, et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet 2000;8:771-776.
11. McMonagle P, Byrne PC, Fitzgerald B, et al. Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations. Neurology 2000;55:1794-1800.
12. 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;68:1077-1085.
13. Meijer IA, Hand CK, Cossette P, et al. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Arch Neurol 2002;59:281-286.
14. Yabe I, Sasaki H, Tashiro K, et al. Spastin gene mutation in Japanese with hereditary spastic paraplegia. J Med Genet 2002;39:e46.
15. Starling A, Rocco P, Passos-Bueno MR, et al. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree. J Med Genet 2002;39:e77.
16. Iwanaga H, Tsujino A, Shirabe S, et al. Large deletion involving the 5′-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia. Am J Med Genet A 2005;133:13-17.
17. Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57.
18. Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Hum Mutat 2005;26:513-519.
19. Hartmann C, John AL, Klaes R, et al. Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families. Hum Mutat 2004;24:534.
20. Bonsch D, Schwindt A, Navratil P, et al. Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene. J Neurol Neurosurg Psychiatry 2003;74:1109-1112.
21. Schickel J, Beetz C, Frommel C, et al. Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin). Neurology 2006;66:421-423.
22. Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working Group. Neurology 1996;46:1507-1514.
23. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983;1:1151-1155.
24. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
25. Shaw CJ, Lupski JR. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet 2004;13:R57-R64.
26. Smith TM, Lee MK, Szabo CI, et al. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1. Genome Res 1996;6:1029-1049.
27. Tessa A, Casali C, Damiano M, et al. SPG3A: An additional family carrying a new atlastin mutation. Neurology 2002;59:2002-2005.
28. 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;25:506.
29. Yip AG, Durr A, Marchuk DA, et al. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J Med Genet 2003;40:e106.
30. Forestier L, Jean G, Attard M, et al. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am J Hum Genet 1999;65:353-359.