Current insights into familial spastic paraparesis: New advances in an old disease

Functional Neurology

Volumn 18, Issue 1, 2003, Pages 43-49

  Fortini, Daniela ^a,b   Cricchi, Federica ^a   Di Fabio, Roberto ^a   Damiano, Maria ^a,c   Comanducci, Giovanna ^a   Benedetti, Laura ^a   Valoppi, Manuela ^a,b   Grieco, Gaetano S ^b   D'Eugenio, Ottavio ^a   Celato, Andrea ^a   Santorelli, Filippo M ^a,b   Casali, Carlo ^a   Amabile, Giuseppe A ^a   Pierelli, Francesco ^a,d  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b Mondino Tor Vergata S Lucia Center   (Italy)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d IRCCS NEUROMED   (Italy)

Author keywords

Autosomal dominant; Autosomal recessive and X linked inheritance; Defective trafficking; Hereditary spastic paraparesis

Indexed keywords

BACLOFEN; CELL ADHESION MOLECULE; CHAPERONIN; KINESIN; PROTEOLIPID PROTEIN; SPASMOLYTIC AGENT;

AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; CLINICAL PRACTICE; CLINICAL TRIAL; CLONE; DIAGNOSTIC ACCURACY; ELECTROSTIMULATION THERAPY; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPERREFLEXIA; LEG; MOLECULAR GENETICS; NERVE DEGENERATION; NEUROTRANSMISSION; PATHOGENESIS; PHYSIOTHERAPY; QUANTITATIVE TRAIT LOCUS MAPPING; REVIEW; SPASTICITY; X CHROMOSOME LINKED DISORDER;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; GENES, DOMINANT; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; SEX CHROMOSOME ABERRATIONS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0038638024     PISSN: 03935264     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (49)

1. Strümpell A. Über eine bestimmte Form der primären combinierten Systemerkrankung des Rückenmarks. Arch Psychiatr Nervenkr 1886;17:217-238
2. Lorrain M. Contribution à l'étude de la paraplégia spasmodique familiale. Thesis. Paris; Steinheil 1898
3. Harding AE. Hereditary "pure" spastic paraplegia: A clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-883
4. Filia A, De Michele G, Marconi R et al. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992;239:351-353
5. Silva MC, Coutinho P, Pinheiro CD, Neves JM, Serrano P. Hereditary ataxias and spastic paraplegias: Methodological aspects of a prevalence study in Portugal. J Clin Epidemiol 1997;50:1377-1384
6. McDermott C, White K, Bushby K, Shaw P. Hereditary spastic paraparesis: A review of new developments. J Neurol Neurosurg Psychiatry 2000;69:150-160
7. Sommerfelt K, Kyllerman M, Sanner G. Hereditary spastic paraplegia with epileptic myoclonus. Acta Neurol Scand 1991;84:157-160
8. Webb S, Patterson V, Hutchinson M. Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia. J Neurol Neurosurg Psychiatry 1997;63:628-632
9. Schady W, Smith CM. Sensory neuropathy in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1994;57:693-698
10. Worster-Drought C. Suprabulbar paresis. Congenital suprabulbar paresis and its differential diagnosis, with special reference to acquired suprabulbar paresis. Dev Med Child Neurol Suppl 1974;30(Suppl 30):1-33
11. Gilman S, Romanul FCA. Hereditary dystonic paraplegia with amyotrophy and mental deficiency: Clinical and neuropathological characteristics. In: Vinken PJ, Bruyn GW eds Handbook of Clinical Neurology. Amsterdam; North Holland 1975:445-465
12. Sutherland JM et al. Familial spastic paraplegia. Its relation to mental and cardiac abnormalities. Lancet 1957;273 (Pt. 2):169-170
13. Webb S, Coleman D, Byrne P et al. Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Brain 1998; 121:601-609
14. Jouet M, Rosenthal A, Armstrong G et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus results from mutations in the L1 gene. Nat Genet 1994;7:402-407
15. Saugier-Veber P, Munnich A, Bonneau D et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262
16. Tamagaki A, Shima M, Tomita R et al. Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. Am J Med Genet 2000;94:5-8
17. Rocco Vainzof M, Froehner SC et al. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 synthrophin. Am J Med Genet 2000;92:122-127
18. Reid E, Dearlove AM, Osborn O, RogersMT, Rubinsztein DC. A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet 2000;66:728-732
19. Fontaine B, Davoine CS, Durr A et al. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet 2000; 66:702-707
20. Lo Nigro C, Cusano R, Scaranari M et al. A refined physical and transcriptional map of a SPG9 locus on 10q23.3-q24.2. Eur J Hum Genet 2000;8:7777-782
21. Patel H, Hart PE, Warner T et al. The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet 2001; 69:209-215
22. Fink JK, Wu CT, Jones SM et al. Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q. Am J Hum Genet 1995;56:188-192
23. White KD, Ince PG, Lusher M et al. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation. Neurology 2000;55:89-94
24. Hazan J, Fonknechten N, Mavel D et al. Spastin, a new AAA protein, is altered in the most frequent from of autosomal dominant spastic paraplegia. Nat Genet 1999;23:293-303
25. 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
26. 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
27. 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
28. 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
29. Nicoziani P, Vilhardt F, Llorente A et al. Role for dynamin in late endosome dynamics and trafficking of the cation-inpendent mannose 6-phosphate receptor. Mol Biol Cell 2000;11:481-495
30. Ochoa GC, Slepnev VI, Neff L et al. A functional link between dynamin and the actin cytoskeleton at podosomes. J Cell Biol 2000;150:377-389
31. Hansen JJ, Durr A, Cournu-Rebeix I et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet 2002; 70:1328-1332
32. Crosby AH, Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet 2002;71:1009-1016
33. Coutinho P, Barros J, Zemmouri R et al. Clinical heterogeneity of autosomal recessive spastic paraplegias: Analysis of 106 patients in 46 families. Arch Neurol 1999;56:943-949
34. Hentati A, Pericak-Vance MA, Hung WY et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994;3:1263-1267
35. Vazza G, Zortea M, Boaretto F, Micaglio GF, Sartori V, Mostacciuolo ML. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am J Hum Genet 2000;67:504-509
36. Hughes CA, Byrne PC, Webb S et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 2001;56: 1230-1233
37. Shibasaki Y, Tanaka H, Iwabuchi K et al. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15. Ann Neurol 2000; 48:108-112
38. Murillo F, Kobayashi H, Pegoraro E et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999; 53:50-56
39. Casali C, Valente EM, Bertini E et al. Clinical and genetic studies in hereditary spastic paraparesis with thin corpus callosum. Neurology 2003; (in press)
40. Casari G, De Fusco M, Ciarmatori S et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitonchondrial metalloprotease. Cell 1998;93:973-983
41. Piemonte F, Casali C, Carrozzo R et al. Respiratory chain defects in hereditary spastic paraplegias. Neuromuscul Disord 2001;11:565-569
42. Patel H, Cross H, Proukakis C et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet 2002;31:347-348
43. Burden-Gulley SM, Pendergast M, Lemmon V. The role of cell adhesion molecule L1 in axonal extension, growth cone motility, and signal transduction. Cell Tissue Res 1997;290:415-422
44. Castellani V, Chedotal A, Schachner M, Faivre Sararilh C, Rougon G. Analysis of the L1-deficient mouse phenotype reveals cross-talk between Sema3A and L1 signaling pathways in axonal guidance. Neuron 2000;27:237-249
45. Klugmann M, Schwab MH, Puhlhofer A et al. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 1997;18:59-70
46. Errico A, Ballabio A, Rugarli EI. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 2002;11:153-163
47. Leonhard K, Hermann JM, Stuart RA, Mannhaupt G, Neupert W, Langer T. AAA proteases with catalytic sites on opposite membrane surfaces comprise a proteolytic system for the ATP-dependent degradation of inner membrane proteins in mitochondria. EMBO J 1996;15:4218-4229
48. Casari G, Rugarli E. Molecular basis of inherited spastic paraplegias. Curr Opin Genet Dev 2001; 11:336-342
49. Pease WS. Therapeutic electrical stimulation for spasticity: Quantitative gait analysis. Am J Phys Rehabil 1998;77:351-355