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, Hui-ming Huang, T. Lehner, J. Ott, H. A. Lubs

Research output: Contribution to journalArticle

18 Citations (Scopus)

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 - 1992
Externally publishedYes

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X-Linked Mental Retardation
Lissencephaly
Paraplegia
Upper Extremity
Genetic Recombination
Lower Extremity
Iron
Arena syndrome

Keywords

  • XLMR with spastic paraplegia and iron deposits

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Arena, J. F., Schwartz, C., Stevenson, R., Lawrence, L., Carpenter, A., Duara, R., ... 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

Spastic paraplegia with iron deposits in the basal ganglia : A new X-linked mental retardation syndrome. / Arena, J. F.; Schwartz, C.; Stevenson, R.; Lawrence, L.; Carpenter, A.; Duara, R.; Ledbetter, D.; Huang, Hui-ming; Lehner, T.; Ott, J.; Lubs, H. A.

In: American Journal of Medical Genetics, Vol. 43, No. 1-2, 1992, p. 479-490.

Research output: Contribution to journalArticle

Arena, JF, Schwartz, C, Stevenson, R, Lawrence, L, Carpenter, A, Duara, R, Ledbetter, D, Huang, H, Lehner, T, Ott, J & Lubs, HA 1992, 'Spastic paraplegia with iron deposits in the basal ganglia: A new X-linked mental retardation syndrome', American Journal of Medical Genetics, vol. 43, no. 1-2, pp. 479-490. https://doi.org/10.1002/ajmg.1320430172
Arena, J. F. ; Schwartz, C. ; Stevenson, R. ; Lawrence, L. ; Carpenter, A. ; Duara, R. ; Ledbetter, D. ; Huang, Hui-ming ; Lehner, T. ; Ott, J. ; Lubs, H. A. / Spastic paraplegia with iron deposits in the basal ganglia : A new X-linked mental retardation syndrome. In: American Journal of Medical Genetics. 1992 ; Vol. 43, No. 1-2. pp. 479-490.
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