Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.
- Authors
- Ashley-Koch, A; Bonner, E R; Gaskell, P C; West, S G; Tim, R; Wolpert, C M; Jones, R; Farrell, C D; Nance, M; Svenson, I K; Marchuk, D A; Boustany, R M; Vance, J M; Scott, W K; Pericak-Vance, M A
- Year
- 2001
- Journal
- Neurogenetics
- PMID
- 11354831
- DOI
- 10.1007/s100480000098
We evaluated seven families segregating pure, autosomal dominant familial spastic paraplegia (SPG) for linkage to four recently identified SPG loci on chromosomes 2q (1), 8q (2), 12q (3), and 19q (4). These families were previously shown to be unlinked to SPG loci on chromosomes 2p, 14q, and 15q. Two families demonstrated linkage to the new loci. One family (family 3) showed significant evidence for linkage to chromosome 12q, peaking at D12S1691 (maximum lod = 3.22). Haplotype analysis of family 3 did not identify any recombinants among affected individuals in the 12q candidate region. Family 5 yielded a peak lod score of 2.02 at marker D19S868 and excluded linkage to other known SPG loci. Haplotype analysis of family 5 revealed several cross-overs in affected individuals, thereby potentially narrowing the SPG12 candidate region to a 5-cM region between markers D19S868 and D19S220. Three of the families definitively excluded all four loci examined, providing evidence for further genetic heterogeneity of pure, autosomal dominant SPG. In conclusion, these data confirm the presence of SPG10 (chromosome 12), potentially reduce the minimum candidate region for SPG12 (chromosome 19q), and suggest there is at least one additional autosomal dominant SPG locus.
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External
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|---|---|---|---|---|
| Event-Related Oscillations in Alcoholism Research: A Review. | Pandey AK et al. | — | 2012 | → |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. | Montenegro G et al. | — | 2012 | → |
| Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. | Battini R et al. | — | 2011 | → |
| Chapter 17 Hereditary spastic paraparesis. | McDermott CJ et al. | — | 2007 | → |
| A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. | Züchner S et al. | — | 2006 | → |
| Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. | Blair MA et al. | — | 2006 | → |
| New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. | Orlacchio A et al. | — | 2005 | → |
| A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). | Reid E et al. | — | 2002 | → |
| Clinical and genetic study of a large Italian family linked to SPG12 locus. | Orlacchio A et al. | — | 2002 | → |