Atypical Gerstmann-Sträussler-Scheinker syndrome caused by PRNP P102L mutation: a case report and literature review / 中华神经科杂志

ABSTRACT

Objective@#To improve the clinician′s recognition of Gerstmann-Sträussler-Scheinker syndrome (GSS).@*Methods@#The detailed clinical information, neuropsychological examination, cerebrospinal fluid examination, imaging characteristics, electroencephalogram examination and gene detection were analyzed in a case of GSS similar to Creutzfeldt-Jakob disease (CJD) in symptomatology. The differences between the two different prion diseases were compared in combination with the literature review.@*Results@#The patient is a 62-year-old woman, with cerebellar ataxia as the first symptom, followed by rapid dementia, accompanied by pyramidal and extrapyramidal signs. Magnetic resonance imaging showed hyper-intense signal in diffusion weighted imaging in caudatum and cortical ribboning, and protein 14-3-3 was negative. PRNP gene analysis showed P102L gene mutation.@*Conclusions@#The typical clinical manifestation of GSS is hereditary ataxia followed by cognitive decline of varying severity. Detection of PRNP plays an important role in the diagnosis of GSS.