A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.
A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Straussler-Scheinker syndrome with P102L mutation in PRNP gene.
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遗传性小脑共济失调家系最终确诊为 PRNP 基因 P102L 突变 Gerstmann-Straussler-Scheinker 综合征
DOI：
10.17712/nsj.2017.2.20160522
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发表时间：
2017-04
期刊：
影响因子：
--
通讯作者：
Lu Z
中科院分区：
文献类型：
--
作者：
Long L;Cai X;Shu Y;Lu Z
Gerstmann-Sträussler-Scheinker综合征（GSS）是一种非常罕见的朊病毒疾病。国内仅3例GSS病例报道。在这里，我们报告了中国南方的第一个GSS家族。一名47岁女性主诉步态不稳和构音障碍。其家族3代中有7人出现类似症状，均在发病后4-6年死亡。为了检测致病突变，我们采用了遗传性疾病的基因分析小组。这揭示了朊病毒蛋白基因（PRNP）基因中的P102 L突变，该基因通常在以小脑共济失调为特征的GSS中发现。然而，GSS是遗传性小脑共济失调的一个罕见病因，许多神经科医生对其不熟悉而容易被忽视，为避免误诊，在无其他病因的遗传性小脑共济失调患者中，尤其是伴有精神症状且生存期短的患者，应考虑GSS的存在。
Gerstmann-Sträussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. A 47-year-old female complained of unsteady gait and dysarthria. Seven other individuals presented similar symptoms in 3 generations of her family, and all died 4–6 years after onset. To detect causative mutations, we employed a gene analysis panel of hereditary diseases. This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia. However, GSS is an uncommon cause of hereditary cerebellar ataxia that might be overlooked because many neurologists are unfamiliar with it. To avoid misdiagnosis in the patients with hereditary cerebellar ataxia, GSS should be taken into account if other causes are absent, especially in patients that have accompanying psychiatric symptoms and a short survival time.
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