Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

SPG12 - spastic paraplegia 12 (autosomal dominant)

Homo sapiens

This record was replaced with 6253.

Reid, E. et al., Ashley-Koch, A. et al., Orlacchio, A. et al.

Orlacchio, Kawarai, Rogaeva, Song, Paterson, Bernardi, St George-Hyslop,

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High impact information on SPG12

Analysis of markers on chromosome 19q gave a peak pairwise LOD score of 3.72 at D19S420, allowing assignment of a novel ADPHSP locus (which we have termed "SPG12") to this region [1].
Haplotype construction and analysis of recombination events narrowed the SPG12 locus to a 16.1-cM region between markers D19S868 and D19S902 [1].
Suggestive evidence of genetic anticipation was obtained, but should be confirmed in other SPG12 families [2].
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 [3].

References

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. Reid, E., Dearlove, A.M., Osborn, O., Rogers, M.T., Rubinsztein, D.C. Am. J. Hum. Genet. (2000) [Pubmed]
Clinical and genetic study of a large Italian family linked to SPG12 locus. Orlacchio, A., Kawarai, T., Rogaeva, E., Song, Y.Q., Paterson, A.D., Bernardi, G., St George-Hyslop, P.H. Neurology (2002) [Pubmed]
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 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. Neurogenetics (2001) [Pubmed]

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