Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia (original) (raw)

References

1. Fink JK, Hedera P (1999) Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation. Semin Neurol 19:301–310
   PubMed CAS Google Scholar
2. Fink JK (2003) The hereditary spastic paraplegias: nine genes and counting. Arch Neurol 60:1045–1049
   Article PubMed Google Scholar
3. Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dube MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T (1996) Hereditary spastic paraplegia: advances in genetic research. Neurology 46:1507–1514
   PubMed CAS Google Scholar
4. Harding AE (1981) Hereditary “pure” spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 44:871–883
   Article PubMed CAS Google Scholar
5. Reid E, Grayson C, Rogers MT, Rubinsztein DC (1999) Locus–phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetics study of 28 United Kingdom families. Brain 122:1741–1755
   Article PubMed Google Scholar
6. Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bonsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud’homme JF, Weissenbach J, Durr A, Hazan J (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 1:637–644
   Article Google Scholar
7. Yip AG, Durr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, Reid E (2003) Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. J Med Genet 40:e106
   Article PubMed CAS Google Scholar
8. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heineman-Peterson T, Ming L, Bui M, Fink JK (2001) Mutation in a novel GTPase cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326–331
   Article PubMed CAS Google Scholar
9. Tessa A, Casali C, Damiano M, Bruno C, Fortini D, Patrono C, Cricchi F, Valoppi M, Nappi G, Amabile GA, Bertini E, Santorelli FM (2002) SPG3A: an additional family carrying a new atlastin mutation. Neurology 59:2002–2005
   PubMed CAS Google Scholar
10. Durr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A (2004) Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol 61:1867–1872
    Article PubMed Google Scholar
11. Hedera P, Fenichel GM, Blair MA, Haines JL (2004) Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Arch Neurol 61:1600–1603
    Article PubMed Google Scholar
12. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J (2004) 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 23:98
    Article PubMed CAS Google Scholar
13. Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA (2002) A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 71:1189–1194
    Article PubMed CAS Google Scholar
14. Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M (2004) Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology 63:1108–1110
    PubMed CAS Google Scholar
15. Hedera P, DiMauro S, Bonilla E, Wald J, Eldevik P, Fink JK (1999) Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q. Neurology 53:44–50
    Article PubMed CAS Google Scholar
16. Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov AS, Bork P (2001) Prediction of deleterious human alleles. Hum Mol Genet 10:591–597
    Article PubMed CAS Google Scholar
17. Goldstein LSB (2001) Kinesin molecular motors: transport pathways, receptors, and human disease. Proc Natl Acad Sci U S A 98:6999–7003
    Article PubMed CAS Google Scholar
18. Xia CH, Roberts EA, Her LS, Liu X, Williams DS, Cleveland DW, Goldstein LSB (2003) Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A. J Cell Biol 161:55–66
    Article PubMed CAS Google Scholar
19. Ashley-Koch A, Bonner ER, Gaskell PC, West SG, Tim R, Wolpert CM, Jones R, Farrell CD, Nance M, Svenson IK, Marchuk DA, Boustany RM, Vance JM, Scott WK, Pericak-Vance MA (2001) Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics 3:91–97
    Article PubMed CAS Google Scholar

Download references