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MeSH Review

Spastic Paraplegia, Hereditary

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  1. Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking. Kunita, R., Otomo, A., Mizumura, H., Suzuki, K., Showguchi-Miyata, J., Yanagisawa, Y., Hadano, S., Ikeda, J.E. J. Biol. Chem. (2004) [Pubmed]
  2. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Rainier, S., Sher, C., Reish, O., Thomas, D., Fink, J.K. Arch. Neurol. (2006) [Pubmed]
  3. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Winner, B., Uyanik, G., Gross, C., Lange, M., Schulte-Mattler, W., Schuierer, G., Marienhagen, J., Hehr, U., Winkler, J. Arch. Neurol. (2004) [Pubmed]
  4. Identification and characterization of YME1L1, a novel paraplegin-related gene. Coppola, M., Pizzigoni, A., Banfi, S., Bassi, M.T., Casari, G., Incerti, B. Genomics (2000) [Pubmed]
  5. Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? Strong, M.J., Gordon, P.H. Amyotroph. Lateral Scler. Other Motor Neuron Disord. (2005) [Pubmed]
  6. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Nielsen, J.E., Johnsen, B., Koefoed, P., Scheuer, K.H., Grønbech-Jensen, M., Law, I., Krabbe, K., Nørremølle, A., Eiberg, H., Søndergård, H., Dam, M., Rehfeld, J.F., Krarup, C., Paulson, O.B., Hasholt, L., Sørensen, S.A. Eur. J. Neurol. (2004) [Pubmed]
  7. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Nolden, M., Ehses, S., Koppen, M., Bernacchia, A., Rugarli, E.I., Langer, T. Cell (2005) [Pubmed]
  8. Hereditary spastic paraplegia: respiratory choke or unactivated substrate? Claypool, S.M., Koehler, C.M. Cell (2005) [Pubmed]
  9. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F.D., Patton, M.A., McKusick, V.A., Crosby, A.H. Nat. Genet. (2002) [Pubmed]
  10. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Zhao, X., Alvarado, D., Rainier, S., Lemons, R., Hedera, P., Weber, C.H., Tukel, T., Apak, M., Heiman-Patterson, T., Ming, L., Bui, M., Fink, J.K. Nat. Genet. (2001) [Pubmed]
  11. Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia. Tang, B., Zhao, G., Xia, K., Pan, Q., Luo, W., Shen, L., Long, Z., Dai, H., Zi, X., Jiang, H. Arch. Neurol. (2004) [Pubmed]
  12. Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia. Klebe, S., Stolze, H., Kopper, F., Lorenz, D., Wenzelburger, R., Deuschl, G., Volkmann, J. J. Neurol. (2005) [Pubmed]
  13. A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. Warner, T.T., Patel, H., Proukakis, C., Reed, J.A., McKie, L., Wills, A., Patton, M.A., Crosby, A.H. J. Neurol. (2004) [Pubmed]
  14. Selective vulnerability of the centrifugal and centripetal axons of primary sensory neurons. Thomas, P.K. Muscle Nerve (1982) [Pubmed]
  15. The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia. Siciliano, G., Pasquali, L., Manca, M.L., Del Corona, A., Tessa, A., Patrono, C., Prontera, C., Zucchelli, G., Santorelli, F.M. Funct. Neurol. (2003) [Pubmed]
  16. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Reid, E., Kloos, M., Ashley-Koch, A., Hughes, L., Bevan, S., Svenson, I.K., Graham, F.L., Gaskell, P.C., Dearlove, A., Pericak-Vance, M.A., Rubinsztein, D.C., Marchuk, D.A. Am. J. Hum. Genet. (2002) [Pubmed]
  17. Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Valente, E.M., Brancati, F., Caputo, V., Bertini, E., Patrono, C., Costanti, D., Dallapiccola, B. Ann. Neurol. (2002) [Pubmed]
  18. Mitochondrial proteins in neuronal degeneration. Lindholm, D., Eriksson, O., Korhonen, L. Biochem. Biophys. Res. Commun. (2004) [Pubmed]
  19. Clinical and genetic study of a large SPG4 Italian family. Orlacchio, A., Kawarai, T., Gaudiello, F., Totaro, A., Schillaci, O., Stefani, A., Floris, R., St George-Hyslop, P.H., Sorbi, S., Bernardi, G. Mov. Disord. (2005) [Pubmed]
  20. Oxidative DNA damage and activation of c-Jun N-terminal kinase pathway in fibroblasts from patients with hereditary spastic paraplegia. Milano, A., Gesualdi, N.M., Teperino, R., Esposito, F., Cocozza, S., Ungaro, P. Cell. Mol. Neurobiol. (2005) [Pubmed]
  21. Motor neurons rely on motor proteins. Holzbaur, E.L. Trends Cell Biol. (2004) [Pubmed]
  22. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Errico, A., Ballabio, A., Rugarli, E.I. Hum. Mol. Genet. (2002) [Pubmed]
  23. Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Charvin, D., Cifuentes-Diaz, C., Fonknechten, N., Joshi, V., Hazan, J., Melki, J., Betuing, S. Hum. Mol. Genet. (2003) [Pubmed]
  24. Motor activation in SPG4-linked hereditary spastic paraplegia. Scheuer, K.H., Nielsen, J.E., Krabbe, K., Paulson, O.B., Law, I. J. Neurol. Sci. (2006) [Pubmed]
  25. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Hansen, J.J., Dürr, A., Cournu-Rebeix, I., Georgopoulos, C., Ang, D., Nielsen, M.N., Davoine, C.S., Brice, A., Fontaine, B., Gregersen, N., Bross, P. Am. J. Hum. Genet. (2002) [Pubmed]
  26. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. Zhu, P.P., Patterson, A., Lavoie, B., Stadler, J., Shoeb, M., Patel, R., Blackstone, C. J. Biol. Chem. (2003) [Pubmed]
  27. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Rainier, S., Chai, J.H., Tokarz, D., Nicholls, R.D., Fink, J.K. Am. J. Hum. Genet. (2003) [Pubmed]
  28. The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B. Reid, E., Connell, J., Edwards, T.L., Duley, S., Brown, S.E., Sanderson, C.M. Hum. Mol. Genet. (2005) [Pubmed]
  29. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Patrono, C., Scarano, V., Cricchi, F., Melone, M.A., Chiriaco, M., Napolitano, A., Malandrini, A., De Michele, G., Petrozzi, L., Giraldi, C., Santoro, L., Servidei, S., Casali, C., Filla, A., Santorelli, F.M. Hum. Mutat. (2005) [Pubmed]
  30. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. Yip, A.G., Dürr, A., Marchuk, D.A., Ashley-Koch, A., Hentati, A., Rubinsztein, D.C., Reid, E. J. Med. Genet. (2003) [Pubmed]
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