Narayanan Vinodh, Rice Stephen G, Olfers Shannon S, Sivakumar Kumaraswamy
St Joseph's Hospital and Medical Center, Phoenix, Arizona 85013, USA.
J Child Neurol. 2011 Dec;26(12):1585-9. doi: 10.1177/0883073811412825. Epub 2011 Jul 10.
Mutations of the SACS gene have been reported in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay from Canada (Quebec), Tunisia, Japan, Turkey, Belgium, Italy, Spain, the Netherlands, and Germany. Features that distinguish autosomal recessive spastic ataxia of Charlevoix-Saguenay from other recessive ataxias include sensory motor polyneuropathy and hypermyelinated retinal nerve fibers. We describe the clinical, electrophysiological, and radiological features in 2 white American siblings diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay. The 2 affected children are compound heterozygotes for nonsense mutations of the SACS gene (c. 3484 G>T, p. E 1162 X; and c. 11,707 C>T, p. R 3903 X). We have measured allele-specific SACS mRNA abundance in peripheral blood and show that these specific mutant mRNAs are not degraded. We suggest that in children with early onset cerebellar ataxia and spasticity, ophthalmological examination and nerve conduction testing may guide genetic testing.
在来自加拿大魁北克、突尼斯、日本、土耳其、比利时、意大利、西班牙、荷兰和德国的患有常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调的患者中，已报道了SACS基因的突变。常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调与其他隐性共济失调的区别特征包括感觉运动性多神经病和视网膜神经纤维髓鞘增厚。我们描述了2名被诊断为常染色体隐性遗传性沙勒沃伊-萨格奈痉挛性共济失调的美国白人同胞的临床、电生理和放射学特征。这2名患病儿童是SACS基因无义突变的复合杂合子（c. 3484 G>T，p. E 1162 X；以及c. 11,707 C>T，p. R 3903 X）。我们已测量了外周血中等位基因特异性SACS mRNA丰度，并表明这些特定的突变mRNA未被降解。我们建议，对于患有早发性小脑共济失调和痉挛的儿童，眼科检查和神经传导测试可能有助于指导基因检测。
