Hereditary spastic paraplegia: Clues from a rare disorder for a common problem?

IUBMB Life

Volumn 55, Issue 6, 2003, Pages 347-352

  Burgunder, Jean Marc ^a,c   Hunziker, Walter ^b  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^c NATIONAL NEUROSCIENCE INSTITUTE   (Singapore)

Author keywords

Atlastin; Hereditary spastic paraplegia; L1 CAM; PLP1; Spartin; Spastin

Indexed keywords

HEAT SHOCK PROTEIN; KINESIN; PROTEOLIPID PROTEIN; SPARTIN; SPASTIN; UNCLASSIFIED DRUG;

CELL ADHESION; CELL FUNCTION; ENERGY METABOLISM; GAIT DISORDER; GENE LOCUS; GENETIC IDENTIFICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR DYNAMICS; MYELINATION; NERVE FIBER; PATHOPHYSIOLOGY; PYRAMIDAL TRACT; REVIEW;

ADENOSINE TRIPHOSPHATASES; CALCIUM-BINDING PROTEINS; CHAPERONIN 60; GTP PHOSPHOHYDROLASES; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; KINESIN; PROTEINS; PROTEOLIPIDS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0042528609     PISSN: 15216543     EISSN: None     Source Type: Journal    
DOI: 10.1080/1521654032000114311     Document Type: Review

References (31)

1. Leon, F., and Dimitrijyevic, M. (1997) Recent concepts in the pathophysiology and evaluation of spasticity. Invest. Clin. 38, 155-162.
2. Fink, J. K., Heiman-Patterson, T., Bird, T., Cambi, F., Dube, M. P., Figlewicz, D. A., Fink, J. K., Haines, J. L., Heiman-Patterson, T., Hentati, A., et al. (1996) Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology 46, 1507-1514.
3. Schwarz, G., and Liu, C.-N. (1956) Hereditary (familial) spastic paraplegia: further clinical and pathological observations. Arch. Neurol. Psychiatry 75, 144-162.
4. Hazan, J., Fonknechten, N., Mavel, D., Paternotte, C., Samson, D., Artiguenave, F., Davoine, C. S., Cruaud, C., Durr, A., Wincker, P., et al. (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 23, 296-303.
5. Crosby, A., and Proukakis, C. (2002) Is the transportation highway the right road for hereditary spastic paraplegia? Am. J. Hum. Genet. 71, 1009-1016.
6. Ciccarelli, F. D., Proukakis, C., Patel, H., Cross, H., Azam, S., Patton, M. A., Bork, P., and Crosby, A. H. (2003) The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics 81, 437-441.
7. Azim, A., Hentati, Q., Haque, M., Hirano, M., Ouachi, K., and Siddique, T. (2000) Spastin, a new AAA protein, binds to a and b tubulins. Am. J. Hum. Genet. 67(suppl), 197.
8. Errico, A., Ballabio, A., and Rugarli, E. I. (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 11, 153-163.
9. Charvin, D., Cifuentes-Diaz, C., Fonknechten, N., Joshi, V., Hazan, J., Melki, J., and Betuing, S. (2003) Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum. Mol. Genet. 12, 71-78.
10. Fonknechten, N., Mavel, D., Byrne, P., Davoine, C. S., Cruaud, C., Boentsch, D., Samson, D., Coutinho, P., Hutchinson, M., McMonagle, P., et al. (2000) Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum. Mol. Genet. 9, 637-644.
11. Svenson, I. K., Ashley-Koch, A. E., Pericak-Vance, M. A., and Marchuk, D. A. (2001) A second leaky splice-site mutation in the spastin gene. Am. J. Hum. Genet. 69, 1407-1409.
12. Burger, J., Fonknechten, N., Hoeltzenbein, M., Neumann, L., Bratanoff, E., Hazan, J., and Reis, A. (2000) Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur. J. Hum. Genet. 8, 771-776.
13. Proukakis, C., Auer-Grumbach, M., Wagner, K., Wilkinson, P. A., Reid, E., Patton, M. A., Warner, T. T., and Crosby, A. H. (2003) Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum. Mutat. 21, 170.
14. Patel, H., Cross, H., Proukakis, C., Hershberger, R., Bork, P., Ciccarelli, F. D., Patton, M. A., McKusick, V. A., and Crosby, A. H. (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat. Genet. 31, 347-348.
15. Kenwrick, S., Watkins, A., and De Angelis, D. (2000) Neural cell recognition molecule L1: relating biologcial complexity to human disease mutations. Hum. Mol. Gen. 9, 879-886.
16. Jouet, M., Rosenthal, A., Armstrong, G., MacFarlane, J., Stevenson, R., Paterson, J., Metzenberg, A., Ionasescu, V., Temple, K., and Kenwrick, S. (1994) X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat. Genet. 7, 402-407.
17. Castellani, V., Chedotal, A., Schachner, M., Faivre-Sarrailh, C., and Rougon, G. (2000) Analysis of the L1-deficient mouse phentype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance. Neuron 27, 237-249.
18. Saugier-Veber, P., Munnich, A., Bonneau, D., Rozet, J. M., Le Merrer, M., Gil, R., and Boespflug-Tanguy, O. (1994) X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat. Genet. 6, 257-262.
19. Campagnoni, A. T., and Skoff, R. P. (2001) The pathobiology of myelin mutants reveal novel bological functions of the MBP and PLP genes. Brain Pathol. 11, 74-91.
20. Yool, D., Edgar, J. M., Mantague, P., and Malcolm, S. (2000) The proteolipid protein gene and myelin disorders in man and animal models. Hum. Mol. Genet. 9, 987-992.
21. Jurevics, H., Hostettler, J., Sammond, D. W., Nave, K.-A., Toews, A. D., and Morell, P. (2003) Normal metabolism but different physical properties of myelin from mice deficient in proteolipid protein. J. Neurosci. Res. 71, 826-834.
22. Southwood, C. M., Garbern, J., Jiang, W., and Gow, A. (2002) The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 36, 585-596.
23. Garbern, J. Y., Yool, D. A., Moore, G. J., Wilds, J. B., Faulk, M. W., Klugman, M., Nave, K.-A., Sistermans, E. A., van der Knaap, M. S., Bird, T. D., et al. (2002) Patients lacking the majore CNS myelin protein proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation. Brain 125, 551-561.
24. Casari, G., De, F. M., Ciarmatori, S., Zeviani, M., Mora, M., Fernandez, P., De, M. G., Filla, A., Cocozza, S., Marconi, R., et al. (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-983.
25. Hansen, J. J., Durr, A., Cournu-Rebeix, I., Georgopoulos, C., Ang, D., Nielsen, M. N., Davoine, C. S., Brice, A., Fontaine, B., Gregersen, N., et al. (2002) Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. 70, 1328-1832.
26. Zhao, X., Alvarado, D., Rainier, S., Lemons, R., Hedera, P., Weber, C. H., Tukel, T., Apak, M., Heiman-Patterson, T., Ming, L., et al. (2001) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat. Genet. 29, 326-331.
27. Conner, S. D., and Schmid, S. L. (2003) Regulated portals of entry into the cell. Nature 422, 37-44.
28. Orth, J. D., and McNiven, M. A. (2003) Dynamin at the actin-membrane interface. Curr. Opin. Cell. Biol. 15, 31-39.
29. Noda, Y., Nakata, T., and Hirokawa, N. (1993) Localization of dynamin: despread distribution in mature neurons and association with membranous organelles. Neuroscience 55, 113-127.
30. 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., et al. (2002) A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71, 1189-1194.
31. Vale, R. D. (2003) The molecular motor toolboxc for intracellular transport. Cell 112, 467-480.