TY - JOUR
T1 - Spastic paraplegia with iron deposits in the basal ganglia
T2 - A new X-linked mental retardation syndrome
AU - Arena, J. F.
AU - Schwartz, C.
AU - Stevenson, R.
AU - Lawrence, L.
AU - Carpenter, A.
AU - Duara, R.
AU - Ledbetter, D.
AU - Huang, T.
AU - Lehner, T.
AU - Ott, J.
AU - Lubs, H. A.
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
KW - XLMR with spastic paraplegia and iron deposits
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U2 - 10.1002/ajmg.1320430172
DO - 10.1002/ajmg.1320430172
M3 - Article
C2 - 1605230
AN - SCOPUS:0026772894
SN - 0148-7299
VL - 43
SP - 479
EP - 490
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1-2
ER -