Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21

Human Heredity

Volumn 48, Issue 3, 1998, Pages 169-178

  Nance, M A ^a,f,h   Raabe, W A ^b   Midani, H ^b   Kolodny, E H ^c   David, W S ^a   Megna, L ^d   Pericak Vance, M A ^e   Haines, J L ^d,g  

^a HENNEPIN COUNTY MEDICAL CENTER   (United States)

^b VA MEDICAL CENTER   (United States)

^c NEW YORK UNIVERSITY   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f PARK NICOLLET CLINIC   (United States)

^g VANDERBILT UNIVERSITY   (United States)

^h PARK NICOLLET INSTITUTE   (United States)

Author keywords

Chromosome 2; Genetic linkage; Spastic paraplegia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 2P; CHROMOSOME MARKER; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENETIC MARKERS; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0031921995     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022798     Document Type: Article

References (20)

1. Harding AE: Hereditary 'pure' spastic paraplegia: A clinical and genetic study of 22 families. J Neurol Neurosurg Psychiatr 1981;44:871-883.
2. Holmes GL, Shaywitz BA: Strumpell's pure familial spastic paraplegia: Genetics and neuropathology, J Neurol Neurosurg Psychiatry 1977; 40:1003-1008.
3. Hentati A, Pericak-Vance MA, Hung W-Y, et al: Linkage of the 'pure' recessive spastic paraplegia to chromosome 8 markers and evidence of locus heterogeneity. Hum Genet 1993;53:1013-1018.
4. Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R: Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet 1987;41:933-943.
5. Hazan J, Fontaine B, Bruyn RPM, Lamy C, van Deutekom JC, Rime CS, Dürr A, Melki J, Lyon-Caen O, Agid Y: Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 1994;3:1569-1573.
6. Hentati A, Pericak-Vance MA. Lennon F, Wasserman B, Hentati F, Juneja T, Angrist MH, Hung WY, Boustany RM, Bohlega S: Linkage of the late-onset autosomal dominant familial spastic paraplegia to chromosome 2p markers. Hum Mol Genet 1994;3:1867-1871.
7. Figlewicz A., Dube MP, Farlow MR, Ebers G, Harper P, Kolodny EH, Baumbach L, Rouleau GA: Autosomal dominant familial spastic paraplegia: Linkage analysis and evidence for linkage to chromosome 2p. Am J Hum Genet 1994;55 (suppl):A185.
8. Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J: Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nature Genet 1993;5: 163-167.
9. Gispert S, Santos N, Damen R, Voit T, Schulz J, Klockgether T, Orozco G, Kreuz F, Weissenbach J, Auburger G: Autosomal dominant familial spastic paraplegia: Reduction of the FSPI candidate region on chromosome 14q to 7cM and locus heterogeneity. Am J Hum Genet 1995;56: 183-187.
10. Fink JK, Wu C-t B, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M: Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q. Am J Hum Genet 1995;56:188-192.
11. Dubé M-P, Rouleau GA, Kibar Z, Farlow MR, Ebers G, Harper P, Kolodny EH, Baumbach L, Figlewicz D: Autosomal dominant hereditary spastic paraplegia: Linkage analysis of a heterogeneous trait. Am J Hum Genet 1993;57:A190.
12. Lennon F, Gaskell PC, Wolpert C, et al: Linkage and heterogeneity in hereditary spastic paraparesis. Am J Hum Genet 1995;57(suppl):A217.
13. Boustany R-M, Fleishick E, Alper CA, Marazita ML, Spence MA, Martin JB, Kolodny EH: The autosomal dominant form of 'pure' familial spastic paraplegia: Clinical findings and linkage analysis of a large pedigree. Neurology 1987;37: 910-915.
14. Fink JK, Heiman-Patterson T: Hereditary Spastic Paraplegia Working Group: Hereditary spastic paraplegia: Advances in genetic research. Neurology 1996;46:1507-1514.
15. Anderson MA, Gusella JF: Use of cyclosporin A in establishing EpStein-Barr virus-transformed human lymphoblastoid cell lines. In Vitro 1984;20:856-858.
16. Lerner T, Boustany RM, MacCormack K, Gleitsman H, Schlumpf K, Breakefield XO, Gusella JF, Haines JL: Linkage disequilibrium between the neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1. Am J Hum Genet 1994;54:88-94.
17. Ploughman LM, Boehnke M: Estimating the power of a proposed linkage study for a complex genetic trait. Am J Hum Genet 1989;44:543-551.
18. Haynes C, Speer MC, Peedin M, Roses AD, Haines JL, Vance JM, Pericak-Vance MA: PEDIGENE: A comprehensive data management system to facilitate efficient and rapid disease gene mapping. Am J Hum Genet 1995;57:A193.
19. Lathrop GM Lalouel JM, Julier C, Ott J: Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984;81:3443-3446.
20. Bickerstaff ER: Hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 1950;13:134-145.