Rudnik-Schöneborn S, Wirth B, Röhrig D, Saule H, Zerres K
Institute for Human Genetics, University of Bonn, Germany.
Neuromuscul Disord. 1995 Jan;5(1):19-23. doi: 10.1016/0960-8966(94)e0025-4.
Two sisters with infantile OPCA plus spinal muscular atrophy (SMA) are reported. Both showed severe hypotonia and psychomotor delay from birth, and in addition, nystagmoid eye movements and vision impairment were evident. Cerebellar hypoplasia with cystic dilatation was seen by neuro-imaging methods. Pathoanatomically, a marked cerebellar hypoplasia and neuronal loss in the basal ganglia, brainstem and anterior horns were found in the deceased girl. Linkage studies with polymorphic markers of the region 5q11.2-q13.3 flanking the gene locus for infantile SMA showed identical parental haplotypes in the patients and their older healthy sister. It can be concluded that the gene locus for infantile SMA on chromosome 5q is not responsible for infantile OPCA plus anterior horn cell degeneration in the described family which might apply to this disorder in general.
本文报告了两例患有婴儿型橄榄脑桥小脑萎缩（OPCA）合并脊髓性肌萎缩（SMA）的姐妹。两人自出生起均表现出严重的肌张力减退和精神运动发育迟缓，此外，眼球震颤样眼动和视力损害也很明显。神经影像学检查发现小脑发育不全并伴有囊性扩张。病理解剖学上，在已故女孩中发现明显的小脑发育不全以及基底神经节、脑干和前角的神经元丢失。对位于婴儿型SMA基因座侧翼的5q11.2 - q13.3区域的多态性标记进行连锁研究，结果显示患者及其健康的姐姐具有相同的亲代单倍型。由此可以得出结论，5号染色体上婴儿型SMA的基因座与所描述家族中的婴儿型OPCA加前角细胞变性无关，这一结论可能普遍适用于该疾病。
