Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome

J. F. Arena, C. Schwartz, R. Stevenson, L. Lawrence, A. Carpenter, R. Duara, D. Ledbetter, T. Huang, T. Lehner, J. Ott, H. A. Lubs

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

We report on a family with X-linked mental retardation (XLMR) and severe spastic paraplegia. Appearance is normal but there is severe involvement of the lower limbs (affected relatives never walked), with minimal involvement of the upper limbs and unusual MRI findings including macrogyria, white matter hypoplasia, lack of myelination and a markedly increased paramagnetic signal suggestive of iron deposition. Linkage studies documented possible linkage, with no recombination, between the disease locus and DXS424. A 7- point linkage analysis yielded a maximum LOD score of 1.9, (θ=0.00) for three loci spanning Xq22-q25. The combination of the unusual clinical and MRI findings and the tentative localization to a region different than other XLMR syndromes with spastic paraplegia, provide good evidence that this is a new XLMR syndrome.

Original languageEnglish (US)
Pages (from-to)479-490
Number of pages12
JournalAmerican journal of medical genetics
Volume43
Issue number1-2
DOIs
StatePublished - Jun 1 1992

Keywords

  • XLMR with spastic paraplegia and iron deposits

ASJC Scopus subject areas

  • Genetics(clinical)

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    Arena, J. F., Schwartz, C., Stevenson, R., Lawrence, L., Carpenter, A., Duara, R., Ledbetter, D., Huang, T., Lehner, T., Ott, J., & Lubs, H. A. (1992). Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome. American journal of medical genetics, 43(1-2), 479-490. https://doi.org/10.1002/ajmg.1320430172