Study of a family with different phenotypes of Gerstmann-Str?ussler-Scheinker syndrome
10.3760/cma.j.cn113694-20240811-00543
- VernacularTitle:不同表型的Gerstmann-Str?ussler-Scheinker综合征家系研究
- Author:
Yihao WANG
1
;
Zhongyun CHEN
1
;
Yu KONG
1
;
Ailing YUE
1
;
Deming JIANG
1
;
Min CHU
1
;
Liyong WU
1
;
Hong YE
1
Author Information
1. 首都医科大学宣武医院神经内科，北京 100053
- Publication Type:Journal Article
- Keywords:
Gerstmann-Str?ussler-Scheinker disease;
Ataxia;
Dementia;
PRNP gene;
Real-time quaking-induced conversion
- From:
Chinese Journal of Neurology
2025;58(2):161-168
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the differences in clinical phenotype characteristics and auxiliary test results of Gerstmann-Str?ussler-Scheinker syndrome (GSS) patients in the same family with GSS carrying a P102L mutation in the PRNP gene. Methods:A family with GSS carrying a P102L mutation in the PRNP gene, which was identified and treated at the Department of Neurology, Xuanwu Hospital, Capital Medical University in January 2024 was collected. A comprehensive evaluation was conducted on the proband, including neuropsychological examination, imaging studies, electroencephalogram, cerebrospinal fluid (CSF) analysis, real-time quaking-induced conversion (RT-QuIC) assay of skin biopsy samples, and genetic testing. At the same time, a survey and analysis were conducted on the family members. Skin RT-QuIC, genetic testing and neuropsychological evaluation were performed on some of the family members. Results:Among the 4-generation members of the GSS family, there were 5 GSS patients, including the proband′s father, younger brother, uncle and cousin. The proband, her younger brother and cousin all carried the P102L mutation in the PRNP gene, and her son was a carrier of the P102L mutation in the PRNP gene. The proband was a 53 years old female, and had a typical GSS phenotype, with the initial symptom of ataxia. The CSF 14-3-3 protein was negative and there were no abnormalities observed on her brain magnetic resonance imaging. The skin and CSF RT-QuIC test results of the proband were both negative. The cousin of the proband had a typical GSS phenotype, and his skin RT-QuIC test result was negative. The younger brother of the proband had a GSS phenotype of Creutzfeldt-Jakob disease type, with the initial symptom of rapidly progressing dementia and a positive skin RT-QuIC test result. The first symptoms of the proband′s father and uncle were both ataxia, and they had passed away without undergoing genetic testing. The son of the proband was a carrier of the P102L mutation in the PRNP gene and had no clinical symptoms. Conclusion:Different family members in the same GSS family may exhibit different clinical phenotypes, and GSS with different phenotypes have differences in RT-QuIC results.
