A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene

A family with mental disorder as the first symptom finally confirmed with Gerstmann–Sträussler–Scheinker disease with P102L mutation in PRNP gene – case report

Published:2023-02-22 Issue:1 Volume:17 Page:37-43
ISSN:1933-6896
Container-title:Prion
language:en
Short-container-title:Prion

Author:

Chen Zeran¹,Guo Junjun²,Ran Ningjing³,Zhong Yujia⁴,Yang Fang³,Sun Honghui³

Affiliation:

1. School of Medical and Life Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 611137, China

2. Pediatric, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 610075, China

3. Neurology Department, Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, 610075, China

4. Clinical Medical College, Chengdu University of Traditional Chinese Medicine, Sichuan, 611137, China

Funder

the Hospital of Chengdu University of Traditional Chinese Medicine

Publisher

Informa UK Limited

Subject

Infectious Diseases,Cell Biology,Cellular and Molecular Neuroscience,Biochemistry

Link

https://www.tandfonline.com/doi/pdf/10.1080/19336896.2023.2180255

Reference16 articles.

1. Katherine Young H, Clark B, Pedro Piccardo SR, et al. Gerstmann–Sträussler–Scheinker disease with the PRNP P102L mutation and valine at codon129. Mol Brain Res. 1997;Vol. 44:147–150. PMID: 33879752.

2. Gerstmann-Sträussler-Scheinker Syndrome with Variable Phenotype in a New Kindred withPRNP-P102L Mutation

3. Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

4. Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family

5. Prionic diseases

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. REAC Neurobiological Modulation as a Precision Medicine Treatment for Fibromyalgia;Journal of Personalized Medicine;2023-05-27