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
American Journal of Medical Genetics , 43(1-2),479--490
(1992 Apr 15-May 1)
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, (theta = 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.
