Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2
J.-J. Xie
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
These authors contributed equally to this work.
Search for more papers by this authorW. Ni
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
These authors contributed equally to this work.
Search for more papers by this authorQ. Wei
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
Search for more papers by this authorCorresponding Author
Z.-Y. Wu
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
Correspondence: Z.-Y. Wu, Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, China (tel.: +86-571-87783569; fax: +86-571-87783569; e-mail: [email protected]).
Search for more papers by this authorJ.-J. Xie
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
These authors contributed equally to this work.
Search for more papers by this authorW. Ni
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
These authors contributed equally to this work.
Search for more papers by this authorQ. Wei
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
Search for more papers by this authorCorresponding Author
Z.-Y. Wu
Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China
Correspondence: Z.-Y. Wu, Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, 88 Jiefang Road, Hangzhou, 310009, China (tel.: +86-571-87783569; fax: +86-571-87783569; e-mail: [email protected]).
Search for more papers by this authorGraphical Abstract
A novel pathogenic PYCR2 variant and corresponding brain images in two patients characterized by spastic paraplegia.
Supporting Information
| Filename | Description |
|---|---|
| ene14530-sup-0001-VideoS1.mp4MPEG-4 video, 6 MB | Video S1. Gait video of the proband (II-5, the right one in white shirt) and her affected sister (II-3, the left one in red shirt). |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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