报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神...报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥“十字征”。基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8。治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好。SCA8为罕见的运动障碍性疾病,临床异质性高。本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥“十字征”等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊。展开更多
Acyl-coenzyme A dehydrogenases （ACAD） are a family of nuclear-coded, mitochondrial flavoenzymes that catalyze the alpha, and beta-dehydrogenation of fatty acids. The eighth member of this family, ACAD8 catalyzes the...Acyl-coenzyme A dehydrogenases （ACAD） are a family of nuclear-coded, mitochondrial flavoenzymes that catalyze the alpha, and beta-dehydrogenation of fatty acids. The eighth member of this family, ACAD8 catalyzes the valine catabolism. In this study, the bovine ACAD8 full-length mRNA and genomic DNA sequence were obtained and its gene structure was determined through alignment of the genomic DNA sequence to the mRNA sequence. The mRNA sequence consisted of a 1,251 bp open reading frame （ORF） flanked by a 37 bp 5＇-untranslated region （UTR） and a 444 bp 3＇-UTR; and its full-length genomic DNA sequence was 13,814 bp in length and included 11 exons and 10 introns. One A-G single nucleotide polymorphism （SNP） was revealed at nucleotide 13,408 （GenBank accession No. DQ435445） in the bovine ACAD8 gene by sequencing the polymerase chain reaction （PCR） products of 6 randomly selected individuals from the sample population. Different genotypes were determined by restriction fragment length polymorphism （RFLP）. The association analysis of this SNP in bovine ACAD8 with production traits in 178 unrelated steers from 5 breeds showed that it had a significant effect on the daily gain and the beef tenderness （P〈0.05）. Cattle with the G allele grew more rapidly and the beef they produced was more tender than those with the A allele. Thus, this SNP of the bovine ACAD8 gene can be used as an indicator to improve the growth rate and the beef tenderness.展开更多
文摘报道1例表现为多系统萎缩小脑型的脊髓小脑性共济失调8型(spinocerebellar ataxia type 8,SCA8)患者。该患者为57岁男性,病程4年,以头晕、共济失调为首发症状,后出现自主神经功能障碍、快速眼动睡眠障碍等表现。神经系统查体提示自主神经功能障碍、眼球震颤、构音障碍、共济失调,颅脑核磁共振见脑干、小脑对称性萎缩及脑桥“十字征”。基因检测结果显示ATXN8OS的两个等位基因CTA/CTG重复次数异常增多,确诊为SCA8。治疗上予以改善共济失调、自主神经功能障碍等对症治疗后患者反应良好。SCA8为罕见的运动障碍性疾病,临床异质性高。本报道旨在提示临床医师,SCA8也可表现为自主神经功能障碍、共济失调、脑桥“十字征”等类似多系统萎缩小脑型的特点,临床工作中要避免误诊、漏诊。
基金This work was supported by Chinese National Programs for High Technology Research and Development (No. 2002AA242011)the 10th Five Years Key Problems for Science and Technology Development of China (No. 2002BA518A14).
文摘Acyl-coenzyme A dehydrogenases （ACAD） are a family of nuclear-coded, mitochondrial flavoenzymes that catalyze the alpha, and beta-dehydrogenation of fatty acids. The eighth member of this family, ACAD8 catalyzes the valine catabolism. In this study, the bovine ACAD8 full-length mRNA and genomic DNA sequence were obtained and its gene structure was determined through alignment of the genomic DNA sequence to the mRNA sequence. The mRNA sequence consisted of a 1,251 bp open reading frame （ORF） flanked by a 37 bp 5＇-untranslated region （UTR） and a 444 bp 3＇-UTR; and its full-length genomic DNA sequence was 13,814 bp in length and included 11 exons and 10 introns. One A-G single nucleotide polymorphism （SNP） was revealed at nucleotide 13,408 （GenBank accession No. DQ435445） in the bovine ACAD8 gene by sequencing the polymerase chain reaction （PCR） products of 6 randomly selected individuals from the sample population. Different genotypes were determined by restriction fragment length polymorphism （RFLP）. The association analysis of this SNP in bovine ACAD8 with production traits in 178 unrelated steers from 5 breeds showed that it had a significant effect on the daily gain and the beef tenderness （P〈0.05）. Cattle with the G allele grew more rapidly and the beef they produced was more tender than those with the A allele. Thus, this SNP of the bovine ACAD8 gene can be used as an indicator to improve the growth rate and the beef tenderness.
