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題 名 | X-Linked Recessive Bulbospinal Neuronopathy: Clinical and Molecular Studies in a Taiwanese Family=X染色體隱性球脊髓神經元病變:臨床分子生物學在一臺灣家族之研究 |
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作 者 | 黃錦章; 陳柔賢; 朱迺欣; 鄭清棋; 馮清榮; 魏耀揮; | 書刊名 | 臺灣醫學會雜誌 |
卷 期 | 97:5 1998.05[民87.05] |
頁 次 | 頁354-359 |
分類號 | 415.149 |
關鍵詞 | X染色體隱性球脊髓神經元病變; 臨床分子生物學; 臺灣家族; X-linked recessive bulbospinal neuronopathy; Molecular genetic analysis; Trinucleotide repeat; Hyperlipoproteinemia; Family study; |
語 文 | 英文(English) |
英文摘要 | We describe clinical, biochemical, and molecular studies on a Taiwanese family with X-linked recessive bulbospinal neuronopathv. There were three probands and five female carriers among the 23 members examined. The clinical manifestations included progressive muscle weakness, diffuse fasciculation, postural tremor, muscle cramps, dysarthria, dysphagia, diabetes, and gynecomastia. Phenotypic expression varied among the affected subjects. Two carriers also had postural tremor and perioral fasciculation. Endocrine tests were normal except for a mild increase in serum testosterone and/or growth hormone in one patient and one carrier, Type IV hperlipoproteinemia was observed in two patients, one carrier, and one healthy offspring. Molecular genetic studies confirmed elongation of the GAG triplet repeat in exon 1 of the gene for the androgen receptor. Sequence analysis showed that there were 42 to 43 CAG repeats in the three probands and 42 to 45 in the five carriers. The mutant allele had a tendency to increase by one or two repeats from one generation to the next. The length of CAG repeats at which the mutant allele became unstable was shorter in our family than in previous reports. The normal allele was also unstable and had a tendency to shrink by one to five repeats during transmission. These findings suggest that the number of CAG triplet repeats is variable in both the mutant and normal alleles. |
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