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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1987 Nov;41(5):933–943.

Etiological heterogeneity in X-linked spastic paraplegia.

L D Keppen 1, M F Leppert 1, P O'Connell 1, Y Nakamura 1, D Stauffer 1, M Lathrop 1, J M Lalouel 1, R White 1
PMCID: PMC1684330  PMID: 3479019

Abstract

We describe a large family (K313) having 12 males affected with X chromosome-linked recessive hereditary spastic paraplegia (HSP). The disease phenotype in K313 is characterized by hyperreflexia and a spastic gait, but intelligence is normal. Carrier females have normal gait and unremarkable neurologic profiles. Eight widely spaced X-linked DNA markers were used to genotype 43 family members. In contrast to a published study of another family, in whom complete linkage of X-linked recessive HSP to distal chromosome Xq markers DXS15 and DXS52 was reported, we observed complete linkage with two DNA markers, pYNH3 and DXS17, located on the middle of the long arm of the X chromosome. These data have been combined with linkage data from a large reference panel of normal families to localize the new X-chromosome marker, pYNH3, and to provide evidence of significant locus heterogeneity between phenotypically distinct forms of X-linked recessive HSP.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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