Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Department of Neurophysiology, Sir Ganga Ram Hospital, New Delhi, India.
Neurol India. 2020 Nov-Dec;68(6):1431-1434. doi: 10.4103/0028-3886.304068.
Gerstmann-Sträussler-Scheinker (GSS) syndrome is a devastating hereditary prion disease, presenting in 4th-5th decade with progressive ataxia and dementia. Pathogenic variants in the PRNP gene lead to aggregation of misfolded prion protein which results in neurodegeneration and death within a few years of onset. A key feature of prion disorders is conversion of normal prion protein (PrPc) into its misfolded form (PrPSc). Genetic modifiers include methionine at position 129 in prion protein and octapeptide repeats. We present an Indian kindred with c. 305C > T, p.Pro102Leu mutation in PRNP gene causing GSS in multiple members and discuss the impact of the polymorphism at position 129 on the severity of illness.
格斯特曼-施特劳斯勒-谢因克（GSS）综合征是一种具有破坏性的遗传性朊病毒病，在 40 到 50 岁时出现进行性共济失调和痴呆。PRNP 基因中的致病性变异导致错误折叠的朊病毒蛋白聚集，从而导致发病后几年内神经退行性变和死亡。朊病毒疾病的一个关键特征是正常朊病毒蛋白（PrPc）转化为其错误折叠形式（PrPSc）。遗传修饰因子包括朊病毒蛋白第 129 位的蛋氨酸和八肽重复。我们介绍了一个印度家系，PRNP 基因中的 c.305C>T，p.Pro102Leu 突变导致多个成员的 GSS，并讨论了第 129 位多态性对疾病严重程度的影响。
