A family with hereditary spastic paraparesis and epilepsy

Epilepsia

Volumn 38, Issue 4, 1997, Pages 495-499

  Webb, Stewart ^a   Flanagan, Niamh ^a   Callaghan, Noel ^b   Hutchinson, Michael ^a  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

^b University College Cork and INFANT Centre   (Ireland)

Author keywords

Epilepsy; Hereditary spastic paraparesis; Heterogeneity

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COMPLEX PARTIAL SEIZURE; ELECTROENCEPHALOGRAM; EPILEPSY; FEMALE; FOCAL EPILEPSY; GAIT DISORDER; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MYOCLONUS EPILEPSY; ONSET AGE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; EPILEPSY; FAMILY; FEMALE; HUMANS; IRELAND; MALE; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0030987023     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1528-1157.1997.tb01741.x     Document Type: Article

References (40)

1. Strumpell A, Beiträge zur Pathologie des Rückenmarks. Arch Psychiatr Nervenkr 1880;10:676-717.
2. Sutherland JM. Familial spastic paraplegia. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology. Amsterdam: North Holland, 1975;22:421-31.
3. Bruyn GW, Mechelse K. The association of familial spastic paraplegia and epilepsy in one family. Psychiatr Neurol Neurochir 1962;65:280-92.
4. Roth M, Tym E, Mountjoy C, et al. CAMDEX. Br J Psychiatry 1986;149:698-709.
5. Gigli GL, Diomedi M, Bernardi G, et al. Spastic paraplegia, epilepsy and mental retardation in several members of a family: a novel genetic disorder. Am J Med Genet 1993;45:711-6.
6. Sommerfelt K, Kyllerman M, Sanner G. Hereditary spastic paraplegia with epileptic myoclonus. Acta Neurol Scand 1991;84:157-60.
7. Skre H. hereditary spastic paraplegia in Western Norway. Clin Genet 1974;6:165-83.
8. Arjundas G, Ramamurthi B, Chettur L. Familial spastic paraplegia (a review with four case reports). J Assoc Phys India 1971;19:653-7.
9. Yin JS, Shuu-Jiun Wang, Ming-Shung Su, et al. Hereditary spastic paraplegia associated with epilepsy, mental retardation and hearing impairment. Paraplegia 1993;31:408-11.
10. Daly D, Sicken R, Burke E. A variety of familial light sensitive epilepsy. Electroencephalogr Clin Neurophysiol 1959;11:141-5.
11. Kuroda S. Familial spastic paraplegia with epilepsy. Acta Med Okayama 1985;39:113-7.
12. Gutmann DM, Fishbeck KH, Kamholz J. Complicated hereditary spastic paraparesis with cerebral white matter lesions. Am J Med Genet 1990;36:251-7.
13. Harding AE. Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatry 1981;44:871-83.
14. Opjordsmoen S, Nyberg-Hansen R. Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. Acta Neurol Scand 1980;61:35-41.
15. Allport R. Mental retardation and spastic paraparesis in four of eight siblings. Lancet 1971;2:1089.
16. Rath R, Das R, Panda R, Santhalia R. Hereditary spastic paraparegia: a review of two families with eight case reports. J Assoc Phys India 1978;26:535-40.
17. Sack G, Heuther C, Garg N, Familial spastic paraplegia - clinical and pathologic studies in a large kindred. Johns Hopkins Med J 1978;143:117-21.
18. Bahemuka M, Brown J. Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in five siblings. Dev Med Child Neurol 1982;24:519-24.
19. Pelosi L, Lanzillo B, Perretti A, et al. Motor and somatosensory evoked potentials in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1991;54:1099-102.
20. Abdallat A, Davis S, Farrage J, McDonald W. Disordered pigmentation, spastic paraparesis and periperal neuropathy in three siblings: a new neurocutaneous syndrome. J Neurol Neurosurg Psychiatry 1980;43:962-6.
21. Raphaelson M, Stevens J, Elders J, Comite F, Theodore W. Familial spastic paraplegia, mental retardation and precocious puberty. Arch Neurol 1983;40:809-10.
22. Honda Y, Sugihara E, Hino H, Shoji H, Oizumi K. Familial cases of spastic paraparesis, mental disturbance and thinning of the corpus callosum. Rinsho Shinkeigaku 1993;33:507-13.
23. Katz D, Naseem A, Dikran S, Horoupian S, Rothner D, Davies P. Familial multisystem atrophy with possible thalamic dementia. Neurology 1984;34:1213-7.
24. D'Hooghe M. Probable cases of Mast syndrome in a non-Amish family. J Neurol Neurosurg Psychiatry 1992;55:210.
25. Oilman S, Horenstein S. Familial amyotrophic dystonic paraplegia. Brain 1964;87:57-66.
26. Hazan J, Lamy C, Melki J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogenous and one locus maps to chromosome 14q. Nature Genet 1993;5:163-7.
27. Hazan J, Fontaine B, Bruyn RPM, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994;3:1569-73.
28. Fink JK, Wu C, Jones SM, et al. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet 1995;56:188-92.
29. Hentati A, Pericak-Vance MA, Hung W, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994;3:1263-7.
30. Keppen LD, Leppert MF, O'Connell P, et al. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987;41:933-43.
31. Goldblatt J, Ballo R, Sachs B, Moosa A. X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype. Clin Genet 1989;35:116-20.
32. Kenwrick S, Ionasescu V, Ionasescu G, et al. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 1986;73:264-6.
33. Leppert M, Anderson VE, Quattlebaum T, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-8.
34. Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53:670-5.
35. Shoffner JM, Lott MT, Lezza AM, el al. Myoclonic epilepsy and ragged red fibre disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990;61:931-7.
36. Tahvanainen E, Ranta S, Hirvasniemi A, et al. The gene for a novel recessively inherited human childhood epilepsy with progressive mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 1994;91:7267-70.
37. Liu AW, Delgado-Escueta AV, Serratosa JM, el al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-81.
38. Lehesjoki AE, Koskiniemi M, Siseonen P, el al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22, Proc Natl Acad Sci USA 1991;88:3696-9.
39. Ottman R, Risen N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nature Genet 1995;10:4-6.
40. Phillips HA, Scheffer IE, Berkovic SF, el al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q. Nature Genet 1995;10:117-8.