Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

Neurogenetics

Volumn 1, Issue 2, 1997, Pages 95-102

  Scott, William K ^a   Gaskell, P Craig ^a   Lennon, Felicia ^a   Wolpert, Chantelle M ^a   Menold, Marisa M ^a   Aylsworth, Arthur S ^b   Warner, Carolyn ^c   Farrell, Carolyn D ^d   Boustany, Rose Mary N ^a   Albright, Susan G ^b   Boyd, Ellen ^e   Kingston, Helen M ^f   Cumming, W J K ^g   Vance, Jeffery M ^a   Pericak Vance, Margaret A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY AT BUFFALO   (United States)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

^e Mission Genetics Center   (United States)

^f ST MARY S HOSPITAL   (United Kingdom)

^g MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Chromosome 14; Chromosome 2; Genetic linkage; Spastic paraplegia

Indexed keywords

DNA; MICROSATELLITE DNA;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 14; CHROMOSOME 2; CHROMOSOME MAP; DOMINANT GENE; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETICS; GENOTYPE; HUMAN; INFANT; MALE; MIDDLE AGED; ONSET AGE; PARAPLEGIA; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 2; DNA; FAMILY HEALTH; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INFANT; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; PARAPLEGIA; PEDIGREE;

EID: 0031215402     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100480050014     Document Type: Article

References (35)

1. Harding, A.E. (1981) Hereditary 'pure' spastic paraplegia: a clinical and genetic study of 22 families. J. Neurol. Neurosurg. Psychiatry, 44, 871-883.
2. Boustany, R-M.N., Fleischnick, E., Alper, C.A., Marazita, M.L., Spence, M.A., Martin, J.B. and Kolodny, E.H. (1987) The autosomal dominant form of 'pure' familial spastic paraplegia: Clinical findings and linkage analysis of a large pedigree. Neurology, 37, 910-915.
3. Cooley, W.C., Rawnsley, E., Melkonian, G., Moses, C., McCann, D., Virgin, B., Coughlan, J. and Moeschler, J.B. (1990) Autosomal dominant familial spastic paraplegia: Report of a large New England family. Clin. Genet., 38, 57-68.
4. Scheltens, P., Bruyn, R.P.M. and Hazenberg, G.J. (1990) A Dutch family with autosomal dominant pure spastic paraparesis (Strumpell's disease). Acta Neurol. Scand., 82, 169-173.
5. Abdallat, A., Davis, S.M., Farrage, J. and McDonald, W.I. (1980) Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: A new neurocutaneous syndrome. J. Neurol. Neurosurg. Psychiatry, 43, 962-966.
6. Stewart, R.M., Tunell, G. and Ehle, A. (1981) Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation: A new neurocutaneous syndrome. Neurology, 31, 754-757.
7. Hentati, A., Pericak-Vance, M.A., Hung, W-Y., Belal, S., Laing, N., Boustany, R.M., Hentati, F., Ben Hamida, M. and Siddique, T. (1994) Linkage of the 'pure' recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum. Mol. Genet., 3, 1263-1267.
8. Thurmon, T.F., Walker, B.A., Scott, C.I. and Abbott, M.H. (1971) Two kindreds with a sex-linked recessive form of spastic paraplegia. Birth Defects, VII, 219-221.
9. Zatz, M., Penha-Serrano, C. and Otto, P.A. (1976) X-linked recessive type of pure spastic paraplegia in a large pedigree: Absence of detectable linkage with Xg. J. Med. Genet., 13, 217-222.
10. Kenwrick, S., Ionasescu, V., Ionasescu, G., Searby, C., King, A., Dubowitz, M. and Davies, K.E. (1986) Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum. Genet., 73, 264-266.
11. Gutmann, D.H., Fischbeck, K.H. and Kamholz, J. (1990) Complicated hereditary spastic paraparesis with cerebral white matter lesions. Am. J. Med. Genet., 36, 251-257.
12. Harding, A.E. (1983) Classification of the hereditary ataxias and paraplegias. Lancet, i, 1151-1155.
13. Schady, W. and Sheard, A. (1990) A quantitative study of sensory function in hereditary spastic paraplegia. Brain, 113, 709-720.
14. Hentati, A., Pericak-Vance, M.A., Lennon, F., Wasserman, B., Hentati, F., Juneja, T., Angrist, M.H., Hung, W-Y., Boustany, R-M., Bohlega, S., Iqbal, Z., Huether, C.H., Ben Hamida, M. and Siddique, T. (1994) Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum. Mol. Genet., 3, 1867-1871.
15. Speer, M.C., Kingston, H.M., Boustany, R-M.N., Gaskell, P.C., Robinson, L.C., Lennon, F., Wolpert, C.M., Yamaoka, L.H., Kahler, S.G., Hogan, E.L., Cumming, W.J.K. and Pericak-Vance, M.A. (1995) Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia. Am. J. Med. Genet., 60, 307-311.
16. Kazan, J., Fontaine, B., Bruyn, R.P.M., Lamy, C., van Deutekom, J.C.T., Rime, C-S., Dürr, A., Melki, J., Lyon-Caen, O., Agid, Y., Munnich, A., Padberg, G.W., de Recondo, J., Frants, R.R., Brice, A. and Weissenbach, J. (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum. Mol. Genet., 3, 1569-1573.
17. Hazan, J., Lamy, C., Melki, J., Munnich, A., de Recondo, J. and Weissenbach, J. (1993) Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet., 5, 163-167.
18. Gispert, S., Santos, N., Damen, R., Voit, T., Schulz, J., Klockgether, T., Orozco, G., Kreuz, F., Weissenbach, J. and Auburger, G. (1995) Autosomal dominant familial spastic paraplegia: Reduction of the FSP I candidate region on chromosome 14q to 7 cM and locus heterogeneity. Am. J. Hum. Genet., 56, 183-187.
19. Fink, J.K., Wu, C.B., Jones, S.M., Sharp, G.B., Lange, B.M., Lesicki, A., Reinglass, T., Varvil, T., Otterud, B. and Leppert, M. (1995) Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q. Am. J. Hum. Genet., 56, 188-192.
20. Lennon, F., Gaskell, P.C., Wolpert C., Aylsworth, A.S., Malin, D., Warner, C., Farrell, C.D., Boustany, R.N., Albright, S.G., Kingston, H.M., Cumming, W.J.K., Hogan, E.L., Vance, J.M. and Pencak-Vance, M.A. (1995) Linkage and heterogeneity in hereditary spastic paraparesis. Am. J. Hum. Genet., 57, A217.
21. Raskind, W.H., Pericak-Vance, M.A., Lennon, F., Wolff, J., Lipe, H.P. and Bird, T.D. (1997) Familial spastic paraparesis: Evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. Am. J. Med. Genet., 74, 26-36.
22. Fink, J.K., Heiman-Patterson, T. and the Hereditary Spastic Paraplegia Working Group (1996) Hereditary spastic paraplegia: Advances in genetic research. Neurology, 46, 1507-1514.
23. De Jonghe, P., Krols, L., Michalik, A., Hazan, J., Smeyers, G., Löfgren, A., Weissenbach, J., Martin, J-J. and Van Broeckhoven, C. (1996) Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees. Eur. J. Hum. Genet., 4, 260-266.
24. Bürger, J., Metzke, H., Paternotte, C., Schilling, F., Hazan, J. and Reis, A. (1996) Autosomal dominant spastic paraplegia with anticipation maps to a 4 cM interval on chromosome 2p21-p24 in a large German family. Hum. Genet., 98, 371-375.
25. Bruyn, R.P.M., van Dutekom J., Frants, R.R. and Padberg, G.W. (1993) Hereditary spastic paraparesis: Clinical and genetic data from a large Dutch family. Clin. Neurol. Neurosurg., 95, 125-129.
26. Vance, J.M., Jonasson, F., Lennon, F., Sarrica, J., Damji, K.F., Stauffer, J., Pericak-Vance, M.A. and Klintworth, G.K. (1996) Linkage of a gene for macular corneal dystrophy to chromosome 16. Am. J. Hum. Genet., 58, 757-762.
27. Vance, J.M., Slotterbeck, B., Yamaoka, L., Haynes, C., Roses, A.D. and Pericak-Vance, M.A. (1996) A fluorescent genotyping system for multiple users, flexibility and high output. Am. J. Hum. Genet., 59, A239.
28. Haynes, C., Speer, M.C., Peedin, M., Roses, A.D., Haines, J.L., Vance, J.M. and Pericak-Vance, M.A. (1995) PEDIGENE: A comprehensive data management system to facilitate efficient and rapid disease gene mapping. Am. J. Hum. Gen., 57, A193.
29. O'Connell, J.R. and Weeks, D.E. (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nature Genet., 11, 402-408.
30. Haynes, C., Pericak-Vance, M. and Dawson, D. (1986) Analysis of Huntington disease linkage and age-of-onset distributions. Genet. Epidemiol., 3 (supplement 1), 235-239.
31. Ott, J. (1991) Analysis of Human Genetic Linkage (revised edition). Johns Hopkins University Press, Baltimore.
32. Cooperative Human Linkage Center. CHLC/Genethon Sex-Averaged Map Data. Available via the internet: 〈http://www.chlc.org〉.
33. Ploughman, L.M. and Boehnke, M. (1989) Estimating the power of a proposed linkage study for a complex genetic trait. Am. J. Hum. Genet., 44, 543-551.
34. Pericak-Vance, M.A. (1994) Analysis of genetic linkage data. In Boyle, A. (ed), Current Protocols in Human Genetics. John Wiley & Sons, New York, pp.1.4.1-1.4.27.
35. Daniel, W.W. (1991) Biostatistics: A Foundation for Analysis in the Health Sciences (5th ed.) John Wiley & Sons, New York.