Atypical Gerstmann-Sträussler-Scheinker syndrome caused by PRNP P102L mutation: a case report and literature review
10.3760/cma.j.issn.1006-7876.2020.02.003
- VernacularTitle: PRNP基因P102L突变致非典型Gerstmann-Sträussler-Scheinker综合征一例并文献复习
- Author:
Donglai JING
1
;
Ran GAO
;
Yu KONG
;
Yuting WANG
;
Yue CUI
;
Junjie LI
;
Lin WANG
;
Liyong WU
Author Information
1. Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China (is now working in the Department of Internal Medicine, Rongcheng County People′s Hospital, Xiongan New Area 071700, China)
- Publication Type:Journal Article
- Keywords:
Gerstmann-Sträussler-Scheinker syndrome;
Ataxia;
Dementia;
Prion disease;
PRNP gene
- From:
Chinese Journal of Neurology
2020;53(2):91-95
- CountryChina
- Language:Chinese
-
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.
