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首页> 外文期刊>Journal of neurology >Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion
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Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

机译：对亨廷顿氏病表型的希腊患者进行基因筛查可确定SCA8扩增

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Huntington's disease (HD) is an autosomal dominant disorder characterized by a triad of chorea, psychiatric disturbance and cognitive decline. Around 1% of patients with HD-like symptoms lack the causative HD expansion and are considered HD phenocopies. Genetic diseases that can present as HD phenocopies include HD-like syndromes such as HDL1, HDL2 and HDL4 (SCA17), some spinocerebellar ataxias (SCAs) and dentatorubral-pallido-luysian atrophy (DRPLA). In this study we screened a cohort of 21 Greek patients with HD phenocopy syndromes for mutations causing HDL2, SCA17, SCA1, SCA2, SCA3, SCA8, SCA12 and DRPLA. Fifteen patients (71%) had a positive family history. We identified one patient (4.8% of the total cohort) with an expansion of 81 combined CTA/ CTG repeats at the SCA8 locus. This falls within what is believed to be the high-penetrance allele range. In addition to the classic HD triad, the patient had features of dystonia and oculomotor apraxia. There were no cases of HDL2, SCA17, SCA1, SCA2, SCA3, SCA12 or DRPLA. Given the controversy surrounding the SCA8 expansion, the present finding may be incidental. However, if pathogenic, it broadens the phenotype that may be associated with SCA8 expansions.The absence of any other mutations in our cohort is not surprising, given the low probability of reaching a genetic diagnosis in HD phenocopy patients.
机译：亨廷顿舞蹈病（HD）是一种常染色体显性遗传疾病，其特征是舞蹈病，精神疾病和认知能力下降三联征。大约1％的具有HD症状的患者缺乏HD致病性扩展，被认为是HD表型。可以表现为HD表型的遗传疾病包括类似HD的综合症，例如HDL1，HDL2和HDL4（SCA17），一些脊髓小脑共济失调（SCA）以及齿前-睑板-胰肾盂萎缩（DRPLA）。在这项研究中，我们筛选了21名患有HD表型综合征的希腊患者队列，以寻找引起HDL2，SCA17，SCA1，SCA2，SCA3，SCA8，SCA12和DRPLA的突变。 15名患者（71％）的家族史为阳性。我们确定了一名患者（占总队列的4.8％），并在SCA8基因座处扩增了81个组合的CTA / CTG重复序列。这落入被认为是高渗透性等位基因范围内。除了经典的HD三联征外，患者还具有肌张力障碍和动眼性失用症的特征。没有HDL2，SCA17，SCA1，SCA2，SCA3，SCA12或DRPLA的情况。考虑到围绕SCA8扩展的争议，目前的发现可能是偶然的。然而，如果是致病性的，它会扩大可能与SCA8扩增有关的表型。鉴于HD表型患者获得基因诊断的可能性较低，因此我们队列中没有其他突变并不奇怪。

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