TY - JOUR
T1 - Linkage analysis in spinopontine atrophy
T2 - Correlation of HLA linkage with phenotypic findings in hereditary ataxia
AU - Bale, A. E.
AU - Bale, S. J.
AU - Schlesinger, S. L.
AU - McFarland, H. F.
PY - 1987
Y1 - 1987
N2 - Because linkage has been reported between HLA and the locus for hereditary ataxia in some families, the authors studied a 3- generation kindred in which several individuals had dominantly inherited spinopontine atrophy. Affected family members had upper and lower limb ataxia, hypoactive reflexes, loss of proprioception, dysarthria, dysphagia, and pronounced extraocular movement abnormalities. Linkage analysis, based on 25 markers in 28 people, gave strongly negative results with both HLA (z <-2.0 for θ <0.15) and GLO1 (z <-2.0, ≤ 0.01). the highest LOD score was for linkage to GPT on chromosome 16 (z = 0.42, θ = 0.0). To assess the relationship between HLA linkage and phenotype, 4 published kindreds with adequate clinical and neuropathological descriptions were used for comparison to the present family. Persons in the 3 families show evidence for HLA linkage had clinical and pathologic changes consistent with olivopontocerebellar atrophy, type 1. The conditions in the 2 'nonlinked' families were phenotypically distinct from the HLA- linked condition with respect to extraocular movement findings and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes.
AB - Because linkage has been reported between HLA and the locus for hereditary ataxia in some families, the authors studied a 3- generation kindred in which several individuals had dominantly inherited spinopontine atrophy. Affected family members had upper and lower limb ataxia, hypoactive reflexes, loss of proprioception, dysarthria, dysphagia, and pronounced extraocular movement abnormalities. Linkage analysis, based on 25 markers in 28 people, gave strongly negative results with both HLA (z <-2.0 for θ <0.15) and GLO1 (z <-2.0, ≤ 0.01). the highest LOD score was for linkage to GPT on chromosome 16 (z = 0.42, θ = 0.0). To assess the relationship between HLA linkage and phenotype, 4 published kindreds with adequate clinical and neuropathological descriptions were used for comparison to the present family. Persons in the 3 families show evidence for HLA linkage had clinical and pathologic changes consistent with olivopontocerebellar atrophy, type 1. The conditions in the 2 'nonlinked' families were phenotypically distinct from the HLA- linked condition with respect to extraocular movement findings and peripheral sensory nervous system signs. They differed markedly from each other in neuropathologic changes.
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M3 - Article
C2 - 3477098
AN - SCOPUS:0023238457
SN - 0148-7299
VL - 27
SP - 595
EP - 602
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 3
ER -