Abstract
We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia.
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Received: 7 March 1997 / Accepted: 14 April 1997
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Steinmüller, R., Lantigua-Cruz, A., Garcia-Garcia, R. et al. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet 100, 287–289 (1997). https://doi.org/10.1007/s004390050507
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DOI: https://doi.org/10.1007/s004390050507