An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa
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DOI：
10.1212/wnl.49.6.1717
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发表时间：
1997-12-01
期刊：
影响因子：
9.9
通讯作者：
Nee, LE
中科院分区：
文献类型：
--
作者：
Higgins, JJ;Morton, H;Nee, LE
我们报告了一种常染色体隐性形式的共济失调，这是不是等位基因弗里德赖希病在6个人从一个大的家族起源追溯到一个共同的创始人的德国-瑞士血统。这种疾病开始于儿童早期，伴随着视野的同心收缩和本体感受的丧失。最终失明，严重的感觉性共济失调，贲门失弛缓症，脊柱侧凸，并在第三个十年的发展。脊髓的反转恢复MRI在受影响的人表现出高信号的后柱。找到导致这种疾病的基因可能有助于我们理解导致感觉神经元变性的机制。
We report an autosomal recessive form of ataxia that is not allelic to Friedreich's disease in six individuals from a large kindred with family origins traced to a common founder of German-Swiss descent. The disorder begins during early childhood with a concentric contraction of the visual fields and proprioceptive loss. Eventually blindness, a severe sensory ataxia, achalasia, scoliosis, and inanition develop by the third decade. Inversion recovery MRIs of the spinal cord in affected individuals demonstrate a hyperintense signal in the posterior columns. Finding the gene responsible for this disorder may aid in our understanding of the mechanisms that cause sensory neuronal degeneration.