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Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.
Publication
, Journal Article
Nance, MA; Raabe, WA; Midani, H; Kolodny, EH; David, WS; Megna, L; Pericak-Vance, MA; Haines, JL
Published in: Hum Hered
1998
The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. All families had 'pure' spastic paraparesis (FSP), but the severity of symptoms varied widely among families, and other mild neurologic signs were observed in some subjects. Although no family individually yielded a lod score >3.0, all families yielded positive lod scores with chromosome 2 markers, and a maximal lod score of 5.7 was obtained for the families combined using marker D2S352. There was no evidence of linkage to chromosome 14 or 15 in any of the families.
Duke Scholars
Published In
Hum Hered
DOI
ISSN
0001-5652
Publication Date
1998
Volume
48
Issue
3
Start / End Page
169 / 178
Location
Switzerland
Related Subject Headings
- Spastic Paraplegia, Hereditary
- Pedigree
- Male
- Humans
- Genetics & Heredity
- Genetic Markers
- Genetic Linkage
- Female
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 15
Citation
APA
Chicago
ICMJE
MLA
NLM
Nance, M. A., Raabe, W. A., Midani, H., Kolodny, E. H., David, W. S., Megna, L., … Haines, J. L. (1998). Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Hum Hered, 48(3), 169–178. https://doi.org/10.1159/000022798
Nance, M. A., W. A. Raabe, H. Midani, E. H. Kolodny, W. S. David, L. Megna, M. A. Pericak-Vance, and J. L. Haines. “Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.” Hum Hered 48, no. 3 (1998): 169–78. https://doi.org/10.1159/000022798.
Nance MA, Raabe WA, Midani H, Kolodny EH, David WS, Megna L, et al. Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Hum Hered. 1998;48(3):169–78.
Nance, M. A., et al. “Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21.” Hum Hered, vol. 48, no. 3, 1998, pp. 169–78. Pubmed, doi:10.1159/000022798.
Nance MA, Raabe WA, Midani H, Kolodny EH, David WS, Megna L, Pericak-Vance MA, Haines JL. Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. Hum Hered. 1998;48(3):169–178.
![Journal cover image](https://secure.syndetics.com/index.aspx?isbn=/lc.gif&issn=0001-5652&client=dukeuniv)
Published In
Hum Hered
DOI
ISSN
0001-5652
Publication Date
1998
Volume
48
Issue
3
Start / End Page
169 / 178
Location
Switzerland
Related Subject Headings
- Spastic Paraplegia, Hereditary
- Pedigree
- Male
- Humans
- Genetics & Heredity
- Genetic Markers
- Genetic Linkage
- Female
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 15