具有表型异质性的假显性弗里德赖希共济失调
Pseudodominant Friedreich's ataxia with phenotypic heterogeneity.
作者信息
Panas M, Kalfakis N, Vassilopoulos D
机构信息
Department of Neurology, Athens National University, Eginition Hospital, Athens, Greece.
出版信息
Acta Neurol Scand. 2007 May;115(5):364-6. doi: 10.1111/j.1600-0404.2007.00734.x.
OBJECTIVE
A family with a clinically heterogeneous progressive ataxia in two generations is presented.
METHODS
Having eliminated mutations within the known dominant spinocerebellar ataxia genes, the family was investigated for expansion at the Friedreich's gene.
RESULTS
The affected members (father, son and daughter) were homozygous for the mutation at the Friedreich's gene, while the unaffected (the mother and her sister) were heterozygous.
CONCLUSION
This pseudodominant form of Friedreich's ataxia should be considered in families with an apparently autosomal dominant progressive ataxia in conjunction with sensory neuropathy and pyramidal signs.
目的
报告一个两代人患有临床异质性进行性共济失调的家族。
方法
在排除已知显性脊髓小脑共济失调基因内的突变后，对该家族进行弗里德赖希共济失调基因的扩增检测。
结果
受累成员（父亲、儿子和女儿）在弗里德赖希共济失调基因处为纯合突变，而未受累者（母亲和她的妹妹）为杂合突变。
结论
对于具有明显常染色体显性进行性共济失调并伴有感觉神经病变和锥体束征的家族，应考虑这种假性显性形式的弗里德赖希共济失调。
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