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Case ReportCase Report
Open Access

A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene

Ling Long, Xiaodong Cai, Yaqing Shu and Zhengqi Lu
Neurosciences Journal April 2017, 22 (2) 138-142; DOI: https://doi.org/10.17712/nsj.2017.2.20160522
Ling Long
From the Department of Neurology (Long, Shu, Lu), The Third Affiliated Hospital of Sun Yat-Sen University, and from the Department of Neurology (Cai), The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510655, Guangdong, People’s Republic of China
MD, PhD
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Xiaodong Cai
From the Department of Neurology (Long, Shu, Lu), The Third Affiliated Hospital of Sun Yat-Sen University, and from the Department of Neurology (Cai), The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510655, Guangdong, People’s Republic of China
MD, PhD
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Yaqing Shu
From the Department of Neurology (Long, Shu, Lu), The Third Affiliated Hospital of Sun Yat-Sen University, and from the Department of Neurology (Cai), The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510655, Guangdong, People’s Republic of China
Msc
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Zhengqi Lu
From the Department of Neurology (Long, Shu, Lu), The Third Affiliated Hospital of Sun Yat-Sen University, and from the Department of Neurology (Cai), The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510655, Guangdong, People’s Republic of China
MD, PhD
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  • For correspondence: [email protected]
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Article Information

vol. 22 no. 2 138-142
DOI 
https://doi.org/10.17712/nsj.2017.2.20160522
PubMed 
28416787

Published By 
Neurosciences Journal
Online ISSN 
1658-3183
History 
  • Received October 30, 2016
  • Accepted January 11, 2017
  • Published online November 13, 2020.

Copyright & Usage 
Copyright: © Neurosciences Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

Author Information

  1. Ling Long, MD, PhD,
  2. Xiaodong Cai, MD, PhD,
  3. Yaqing Shu, Msc and
  4. Zhengqi Lu, MD, PhD⇑
  1. From the Department of Neurology (Long, Shu, Lu), The Third Affiliated Hospital of Sun Yat-Sen University, and from the Department of Neurology (Cai), The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou 510655, Guangdong, People’s Republic of China
  1. Address correspondence and reprint request to: Dr. Zhengqi Lu, Department of Neurology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, People’s Republic of China. E-mail: lzq1828{at}163.com
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Cited By...

  • 6 Citations
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    Adam Tesar, Radoslav Matej, Jaromir Kukal, Silvie Johanidesova, Irena Rektorova, Martin Vyhnalek, Jiri Keller, Ilona Eliasova, Eva Parobkova, Magdalena Smetakova, Zuzana Musova, Robert Rusina
    Annals of Neurology 2019 86 5
  • Prion Mutations in Republic of Republic of Korea, China, and Japan
    Dan Yeong Kim, Kyu Hwan Shim, Eva Bagyinszky, Seong Soo A. An
    International Journal of Molecular Sciences 2022 24 1
  • Gerstmann-Sträussler-Scheinker disease: A case report
    Ming-Ming Zhao, Liang-Shu Feng, Shuai Hou, Ping-Ping Shen, Li Cui, Jia-Chun Feng
    World Journal of Clinical Cases 2019 7 3
  • A systemic analysis of Creutzfeldt Jakob disease cases in Asia
    Urwah Rasheed, Sana Khan, Minahil Khalid, Aneeqa Noor, Saima Zafar
    Prion 2024 18 1
  • Gerstmann—Sträussler disease: a familial case with common PRNP mutation and atypical features
    G.E. Rudenskaya, F.A. Konovalov, S.N. Illarioshkin, O.A. Shchagina
    S.S. Korsakov Journal of Neurology and Psychiatry 2023 123 2
  • Case report: A Chinese patient with spinocerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation
    Lin Chen, Yin Xu, Ming-juan Fang, Yong-guang Shi, Jie Zhang, Liang-liang Zhang, Yu Wang, Yong-zhu Han, Ji-yuan Hu, Ren-min Yang, Xu-en Yu
    Frontiers in Neurology 2023 14
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Neurosciences Journal: 22 (2)
Neurosciences Journal
Vol. 22, Issue 2
1 Apr 2017
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A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Neurosciences Journal Apr 2017, 22 (2) 138-142; DOI: 10.17712/nsj.2017.2.20160522

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A family with hereditary cerebellar ataxia finally confirmed as Gerstmann-Sträussler-Scheinker syndrome with P102L mutation in PRNP gene
Ling Long, Xiaodong Cai, Yaqing Shu, Zhengqi Lu
Neurosciences Journal Apr 2017, 22 (2) 138-142; DOI: 10.17712/nsj.2017.2.20160522
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© 2025 Neurosciences Journal Neurosciences is copyright under the Berne Convention and the International Copyright Convention. All rights reserved. Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3183. Print ISSN 1319-6138.

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