Pearls & Oy-sters: challenging diagnosis of Gerstmann-Sträussler-Scheinker disease: clinical and imaging findings

PEARLS >Gerstmann-Straussler-Scheinker disease (GSS) is a rare prion disease characterized by cerebellar ataxia with progressive cognitive decline. >GSS is caused by a mutation within the prion protein gene (PRNP), which commonly exhibits autosomal dominant inheritance pattern. However, a significant portion of previously reported cases showed no family history of the disease, and GSS may also occur through de novo mutation of PRNP. OY-STERS >GSS is clinically heterogeneous and has no characteristic features on imaging. GSS could be considered in patients experiencing unexplained ataxia and subsequent cognitive decline even in those without a family history of the disease.

【核心要点】
格斯特曼-施特劳斯勒-申克病（Gerstmann-Straussler-Scheinker disease, GSS）是一种罕见的朊病毒疾病，以伴进行性认知衰退的小脑共济失调为特征。GSS由朊蛋白基因（PRNP）突变引发，该类突变多呈常染色体显性遗传模式。但既往报道的病例中，相当比例无该病家族史，GSS也可因PRNP的新发突变而发病。
【临床提示】
GSS具有临床异质性，且影像学检查无特征性表现。对于出现不明原因共济失调并后续发生认知衰退的患者，即便无该病家族史，也应考虑GSS的鉴别诊断。