AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY
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DOI：
10.1017/s0317167100024793
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发表时间：
1978-01-01
影响因子：
3
通讯作者：
BOUCHARD, RW
中科院分区：
文献类型：
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作者：
BOUCHARD, JP;BARBEAU, A;BOUCHARD, RW
在魁北克的Charlevoix-Saguenay地区发现了一种新的常染色体隐性遗传性痉挛性共济失调综合征。这种综合征是非常同质的，包括：痉挛，构音障碍，远端肌肉萎缩，足畸形，躯干共济失调，下肢感觉诱发电位的缺乏，视网膜条纹联想到早期Leber萎缩和二尖瓣脱垂的频繁存在（57%）。在生化方面，许多病例显示丙酮酸氧化受损，其他病例有高胆红素血症，一些病例有低血清β-脂蛋白和HDL载脂蛋白。这些特征与胰蛋白酶性弗里德赖希共济失调相似。
A new syndrome of autosomal recessive spastic ataxia has been isolated in the Charlevoix-Saguenay region of Quebec. This syndrome is remarkably homogeneous and includes: spasticity, dysarthria, distal muscle wasting, foot deformities, truncal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's atrophy and the frequent presence (57%) of a prolapse of the mitral valve. Biochemically, many cases show impaired pyruvate oxidation, others have hyperbilirubinaemia and some have low serum β-lipoproteins and HDL apoproteins. These features are similar to those found in trypical Friedreich's ataxia.