SPINOCEREBELLAR ATAXIA, TYPE-3 (SCA3) IS GENETICALLY IDENTICAL TO MACHADO-JOSEPH DISEASE (MJD)
SPINOCEREBELLAR ATAXIA, TYPE-3 (SCA3) IS GENETICALLY IDENTICAL TO MACHADO-JOSEPH DISEASE (MJD)
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DOI：
10.1016/0022-510x(95)90927-i
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发表时间：
1995-09-01
影响因子：
4.4
通讯作者：
MULLER, U
中科院分区：
文献类型：
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作者：
HABERHAUSEN, G;DAMIAN, MS;MULLER, U
脊髓小脑性共济失调，3型（SCA3）和Machado-Joseph病（MJD）是常染色体显性小脑性共济失调异质组的两个临床不同代表。在SCA3和MJD中，将疾病基因分配到14号染色体长臂的同一区域表明这两种疾病在遗传上是相同的。最近在MJD基因中发现的三核苷酸（GAG）重复扩增有助于评估这一假设。我们分析了一个家族成员的MJD基因，该家族成员具有SCA3的特征特征，但没有MJD的典型症状。我们在MJD患者的基因中发现了相同的三核苷酸重复扩增。研究结果表明，SCA3和MJD在基因上是相同的，尽管它们有明显的临床差异。此外，我们证明了CAG重复拷贝数在同一家族的受影响成员之间的显著差异。
Spinocerebellar ataxia, type 3 (SCA3) and Machado-Joseph disease (MJD) are two clinically distinct representatives of the heterogeneous group of autosomal dominant cerebellar ataxias. Assignment of the disease genes to the same region of the long arm of chromosome 14 in both SCA3 and MJD suggested that these two disorders are genetically identical. The recent identification of a trinucleotide (GAG) repeat expansion in a gene underlying MJD facilitates assessment of this hypothesis. We analysed the MJD gene in members of a family with characteristic features of SCA3 and no symptoms typical of MJD. We found the same trinucleotide repeat expansion within the gene that was previously described in patients with MJD. The findings demonstrate that SCA3 and MJD are genetically identical in spite of their pronounced clinical differences. Furthermore, we demonstrate a striking variation in the copy number of the CAG repeat among affected members of the same family.