Is the transportation highway the right road for hereditary spastic paraplegia?

American Journal of Human Genetics

Volumn 71, Issue 5, 2002, Pages 1009-1016

  Crosby, Andrew H ^a   Proukakis, Christos ^b  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN; HEAT SHOCK PROTEIN; KINESIN; SPASTIN;

CHROMOSOME MAP; GENE LOCATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MUSCLE WEAKNESS; NERVE DEGENERATION; NERVE FIBER GROWTH; PRIORITY JOURNAL; REVIEW; SPASTIC PARAPLEGIA; SPASTICITY; X CHROMOSOME LINKAGE;

EID: 0036844683     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344206     Document Type: Article

References (53)

1. Apodaca G (2001) Endocytic traffic in polarized epithelial cells: Role of the actin and microtubule cytoskeleton. Traffic 2:149-159
2. Almenar-Queralt A, Goldstein LS (2001) Linkers, packages and pathways: New concepts in axonal transport. Curr Opin Neurobiol 11:550-557
3. Babst M, Sato TK, Banta LM, Emr SD (1997) Endosomal transport function in yeast requires a novel AAA-type ATPase, Vps4p. EMBO J 16:1820-1831
4. Babst M, Wendland B, Estepa EJ, Emr SD (1998) The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function. EMBO J 17:2982-2993
5. Barr VA, Phillips SA, Taylor SI, Haft CR (2000) Overexpression of a novel sorting nexin, SNX15, affects endosome morphology and protein trafficking. Traffic 1:904-916
6. Behan W, Maia M (1974) Strumpell's familial spastic paraplegia: Genetics and neuropathy. J Neurol Neurosurg Psychiatry 37:8-20
7. Beyer A (1997) Sequence analysis of the AAA protein family. Protein Sci 6:2043-2058
8. Bishop N, Woodman P (2000) ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking. Mol Biol Cell 11:227-239
9. Blatch GL, Lassle M (1999) The tetratricopeptide repeat: A structural motif mediating protein-protein interactions. Bioessays 21:932-939
10. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Durr A, Fontaine B, Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93:973-983
11. Casari G, Rugarli E (2001) Molecular basis of inherited spastic paraplegias. Curr Opin Genet Dev 11:336-342
12. Cross HE, and McKusick VA (1967) The Troyer syndrome: A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16:473-485
13. Errico A, Ballabio A, Rugarli EI (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11:153-163
14. Fayet O, Ziegelhoffer T, Georgopoulos C (1989) The groES and groEL heat shock gene products of Escherichia coli are essential for bacterial growth at all temperatures. J Bacteriol 171:1379-1385
15. Ferreirinha F, Quattrini A, Valsecchi V, Errico A, Balabio A, Rugarli EI (2001) Mice lacking paraplegin, a mitochondrial protease involved in hereditary spastic paraplegia, show axonal degeneration and abnormal mitochondria. Mitochondrion 1:S21-S22
16. Fonknechten N, Mavel D, Byrne P, Davoine C-S, Cruaud C, Boentsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder J-M, 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 9:637-644
17. Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995) CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3:273-284
18. Goldstein LSB, Yang Z (2000) Microtubule-based transport systems in neurons: The roles of kinesins and dynamins. Annu Rev Neurosci 23:39-71
19. Griffiths I, Klugmann M, Anderson T, Yool D, Thomson C, Schwab MH, Schneider A, Zimmermann F, McCulloch M, Nadon N, Nave KA (1998) Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 280:1610-1613
20. Gruenberg J (2001) The endocytic pathway: a mosaic of domains. Nat Rev Mol Cell Biol 2:721-730
21. Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, Bross P (2002) Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 70:1328-1332
22. Hayashi S, Okada T, Igarashi N, Fujita T, Jahangeer S, Nakamura SI (2002) Identification and characterization of RPK118, a novel sphingosine kinase-1-binding protein. J Biol Chem 277:33319-33324
23. Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Durr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23: 296-303
24. Hinshaw JE, Schmid SL (1995) Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding. Nature 374:190-192
25. Hoyt MA, He L, Totis L, Saunders WS (1993) Loss of function of Saccharomyces cerevisiae kinesin-related CIN8 and KIP1 is suppressed by KAR3 motor domain mutations. Genetics 135:35-44
26. Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, 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
27. Leonhard K, Stiegler A, Neupert W, Langer T (1999) Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease. Nature 398:348-351
28. Matteoni R, Kreis TE (1987) Translocation and clustering of endosomes and lysosomes depends on microtubules. J Cell Biol 105:1253-1265
29. McDermott C, White K, Bushby K, Shaw P (2000) Hereditary spastic paraparesis: A review of new developments. J Neurol Neurosurg Psychiatry 69:150-160
30. McNiven MA, Cao H, Pitts KR, Yoon Y (2000) The dynamin family of mechanoenzymes: Pinching in new places. Trends Biochem Sci 25:115-120
31. Muglia M, Magariello A, Nicoletti G, Patitucci A, Gabriele AL Conforti FL, Mazzei R, Caracciolo M, Ardito B, Lastilla M, Tedeschi G, Quattrone A (2002) Further evidence that SPG3A mutations cause autosomal dominant hereditary spastic paraplegia. Ann Neurol 51:794-795
32. Nara A, Mizushima N, Yamamoto A, Kabeya Y, Ohsumi Y, Yoshimori T (2002) SKD1 AAA ATPase-dependent endosomal transport is involved in autolysosome formation. Cell Struct Funct 27:29-37
33. Orth M, Schapira AH (2001) Mitochondria and degenerative disorders. Am J Med Genet 106:27-36
34. Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick V, Crosby AH (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 31:347-348
35. Patel S, Latterich M (1998) The AAA team: Related ATPases with diverse functions. Trends Cell Biol 8:65-71
36. Prekeris Rm Foletti DL, Scheller RH (1999) Dynamics of tubulovesicular recycling endosomes in hippocampal neurons. J Neurosci 19:10324-10337
37. Phillips SA, Barr VA, Haft DH, Taylor SI, Haft CR (2001) Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking. J Biol Chem 276: 5074-5084
38. Rahman A, Kamal A, Roberts EA, Goldstein LS (1999) Defective kinesin heavy chain behavior in mouse kinesin light chain mutants. J Cell Biol 146:1277-1288
39. Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carre S, Alonso E, Manfredi M, Nemeth AH, Monaco AP (2001) A conserved sorting-associated protein is mutant in choreaacanthocytosis. Nat Genet 28:119-120
40. Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, 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 (in this issue)
41. Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, 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
42. Scheuring, S. Rohricht RA, Schoning-Burkhardt B, Beyer A, Muller S, Abts HF, Kohrer K (2001) Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking. J Mol Biol 312:469-480
43. Schwarz GA, Liu C-N (1956) Hereditary (familial) spastic paraplegia: Further clinical and pathological observations. Arch Neurol Psychiatry 75:144-162
44. Seeligmuller AS (1876) Sklerose der Seintenstrange des Rückenmarks bei vier Kindern derselben Familie. Dtsch Med Wschr 2:185-186
45. Slavotinek AM, Biesecker LG (2001) Unfolding the role of chaperones and chaperonins in human disease. Trends Genet 17:528-535
46. Strumpell A (1880) Beitrage zur Pathologie des Rückenmarks. Arch Psychiatr Nervenkr 10:676-717
47. Svenson IK, Ashley-Koch AE, Gaskell PC, Riney TJ, Cumming WJ, Kingston HM, Hogan EL, Boustany RM, Vance JM, Nance MA, Pericak-Vance MA, Marchuk DA (2001) Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 68:1077-1085
48. Thelen K, Kedar V, Panicker AK, Schmid R-S, Midkiff BR, Maness PF (2002) The neural cell adhesion molecule L1 potentiates integrin-dependent cell migration to extracellular matrix proteins. J Neurosci 22: 4918-4931
49. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160-165
50. Yoshimori, T. Yamagata F, Yamamoto A, Mizushima N, Kabeya Y, Nara A, Miwako I, Ohashi M, Ohsumi M, Ohsumi Y (2000) The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells. Mol Biol Cell 11:747-763
51. Zhang M, Dwyer NK, Love DC, Cooney A, Comly M, Neufeld E, Pentchev PG, Blanchette-Mackie EJ, Hanover JA (2001) Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc Natl Acad Sci USA 98:4466-4471
52. Zhao C, Takita J, Tanaka Y, Setou M, Nakagawa T, Takeda S, Yang HW, Terada S, Nakata T, Takei Y, Saito M, Tsuji S, Hayashi Y, Hirokawa N (2001a) Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ. Cell 105:587-597
53. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK (2001b) Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 29:326-331