Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; Report of two sisters

Journal of Clinical Neuroscience

Volumn 11, Issue 4, 2004, Pages 427-430

  Vucic, Steve ^a   Lye, Tanya ^a   Dunn, Graham ^a   Corbett, Alastair ^a,b  

^a ANZAC Research Institute   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Cognitive impairment; Hereditary spastic paraparesis; Thin corpus callosum

Indexed keywords

ACTION POTENTIAL; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN SCINTISCANNING; CASE REPORT; CHOREA; CLINICAL FEATURE; COGNITION; COGNITIVE DEFECT; DENERVATION; DYSARTHRIA; DYSTONIA; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; JAPAN; MAGNETIC STIMULATION; MARCHIAFAVA BIGNAMI DISEASE; MUSCLE WEAKNESS; NERVE FIBER DEGENERATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAPLEGIA; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL;

EID: 2342635019     PISSN: 09675868     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0967-5868(03)00157-7     Document Type: Article

References (19)

1. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1(8334): 1151-1155.
2. Coutinho P, Barros J, Zemmouri R, Guimaraes J, Alves C, Chorao R, Lourenco E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud'homme JF, Grid D. Clinical heterogeneity of autosomal spastic paraparesis: analysis of 106 patients in 46 families. Arch Neurol 1999; 56: 943-949.
3. Fink JK. Hereditary spastic paraplegia: the pace quickens. Ann Neurol 2002; 51: 669-772.
4. Hentati A, Pericak-Vance MA, Hung WY, Belal S, Laing N, Boustany RM, Hentati F, Ben Hamida M, Siddique T. 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.
5. 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. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 3: 973-983.
6. Vazza G, Zoreta 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.
7. Hughes CA, Byrne PC, Webb S, McMonagle P, Patterson V, Hutchison M, Parfery NA. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 2001; 56: 1230-1233.
8. Shibasaki Y, Tanaka H, Iwabuchi K, Kawasaki S, Kondo H, Uekawa K. Ueda M, Kamiya T, Katayama Y, Nakamura A, Takashima H, Nakagawa M, Masuda M, Utsumi H, Nakamuro T, Tada K, Kurohara K, Inoue K, Koike F, Sakai T, Tsuji S, Kobayashi H. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15A13-15. Ann Neurol 2000; 48: 108-112.
9. Nakamura A, Izumi K, Umehara F, Kuriyama M, Hokezu Y, Nakagawa M, Shimmyozu K, Izumo S, Osame M. Familial spastic paraplegia with mental impairment and thin corpus callosum. J Neurol Sci 1995; 131: 35-42.
10. Ueda M, Katayama Y, Kamiya T, Mishina M, Igarashi H, Okubo S, Senda M, Iwabuchi K, Terashi A. Hereditary spastic paraplegia with a thin corpus callosum and thalamic involvement in Japan. Neurology 1998; 51(6): 1751-1754.
11. Katayama T, Sakamoto N, Kuroda K, Yahara O, Ugawa Y. A case of spastic paraparesis with mental deterioration and markedly thin corpus callosum-callosal dysfunction demonstrated by magnetic stimulation. Rinsho Shinkeigaku 1998; 38(5): 418-422.
12. Wakabayashi K, Koyobashi H, Kawakai S, Kondo H, Takahashi H. Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules. Acta Neuropathol (Berl) 2001; 101(1): 69-73.
13. Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard J-P, Mathieu J, Rouleau GA. The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet 1996; 58: 28-34.
14. Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere J-B, Prevost C, Horst J, Simonati A, et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet 2002; 32: 384-392.
15. Naiman JL, Fraser FC. Agenesis of the corpus callosum. A report of two cases in siblings. Arch Neurol Psychiat 1955; 74: 182-185.
16. Andermann F, Andermann E, Joubert M, Karpati G, Carpenter S, Melancon D. Familial agenesis of the corpus callosum with anterior horn cell disease. A syndrome of mental retardation, areflexia, and paraplegia. Trans Am Neurol Assoc 1972; 97: 242-244.
17. Fransen E, Vits L, Van Camp G, Willems PJ. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. Am J Med Genet 1996; 64(1): 73-77.
18. Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 1999; 53(1): 50-56.
19. Teive HA, Iwamoto FM, Della Coletta MV, Camargo CH, Bezerra RD, Minguetti G, Werneck LC. Hereditary spastic paraplegia associated with thin corpus callosum. Arq Neuropsiquiatr 2001; 59: 784-789.