Department of Neurology, The First Affiliated Hospital of Shenzhen University.
Department of Neurology, The Third Affiliated Hospital of Shenzhen University.
Medicine (Baltimore). 2021 Apr 23;100(16):e25687. doi: 10.1097/MD.0000000000025687.
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare autosomal dominant disease caused by a mutation in the prion protein gene (PRNP) that is not well known among neurologists and is therefore easily misdiagnosed.
: A 49-year-old man was admitted for the first time because of an unsteady walk with mogilalia for 1 year. He underwent a cervical discectomy and a plate-screw fixation 6 months prior, although postoperative gait instability did not improve.
Whole exome sequencing identified a pathogenic and heterozygous mutation in the PRNP 4 years after onset. The patient was eventually diagnosed with GSS.
Symptomatic treatment to improve cerebrocirculation and cerebrometabolism was provided.
The neurological decline continued. The Mini-Mental State Examination and modified Rankin Scale scores changed from 19 to 11 and 2 to 5, respectively. Progressive cerebral and cerebellar atrophy on magnetic resonance imaging was observed.
Cerebral and cerebellar atrophy are neuroimaging features symptomatic of GSS that become more apparent as the disease progresses. This atrophy is positively correlated with the severity of symptoms and reduced quality of life. Neurologists treating middle-aged patients with progressive ataxia, cognitive impairment or dysarthria, and brain atrophy need to consider the possibility of GSS.
Gerstmann-Straussler-Scheinker 综合征（GSS）是一种罕见的常染色体显性遗传病，由朊病毒蛋白基因（PRNP）突变引起，在神经科医生中并不常见，因此容易误诊。
一名 49 岁男性因进行性共济失调伴构音障碍 1 年首次入院。他在 6 个月前接受了颈椎间盘切除术和钢板螺钉固定术，但术后步态不稳并未改善。
全外显子组测序在发病 4 年后发现 PRNP 存在致病性杂合突变。患者最终被诊断为 GSS。
给予改善脑循环和脑代谢的对症治疗。
神经功能恶化。简易精神状态检查和改良 Rankin 量表评分分别从 19 分降至 11 分，从 2 分增至 5 分。磁共振成像显示进行性脑和小脑萎缩。
脑和小脑萎缩是 GSS 的神经影像学特征，随着疾病的进展变得更加明显。这种萎缩与症状的严重程度和生活质量的降低呈正相关。治疗中年进展性共济失调、认知障碍或构音障碍伴脑萎缩的神经科医生需要考虑 GSS 的可能性。
