Two heterozygous progranulin mutations in progressive supranuclear palsy

Wanlin Yang¹, Bin Deng¹, Yu Huang¹, Jingxing Liu², Zifeng Huang¹, Zihan Chang¹, Shuzhen Zhu¹, Ling-Ling Chan^{3

4}, K Ray Chaudhuri⁵, Eng-King Tan^{3

4}, Qing Wang¹

Affiliations

¹ Department of Neurology, Zhujiang Hospital of Southern Medical University, Guangzhou, Guangdong 510282, P. R. China.
² Guangzhou Kingmed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong 510005, P. R. China.
³ Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore.
⁴ Duke-NUS Medical School, Singapore.
⁵ Parkinson Foundation International Centre of Excellence at King's College Hospital, and Kings College, Denmark Hill, London, SE5 9RS UK.

Comment

Wanlin Yang et al. Brain. 2021.

. 2021 Apr 12;144(3):e27.

doi: 10.1093/brain/awaa428.

Wanlin Yang¹, Bin Deng¹, Yu Huang¹, Jingxing Liu², Zifeng Huang¹, Zihan Chang¹, Shuzhen Zhu¹, Ling-Ling Chan^{3

4}, K Ray Chaudhuri⁵, Eng-King Tan^{3

4}, Qing Wang¹

¹ Department of Neurology, Zhujiang Hospital of Southern Medical University, Guangzhou, Guangdong 510282, P. R. China.
² Guangzhou Kingmed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong 510005, P. R. China.
³ Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore.
⁴ Duke-NUS Medical School, Singapore.
⁵ Parkinson Foundation International Centre of Excellence at King's College Hospital, and Kings College, Denmark Hill, London, SE5 9RS UK.

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Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.
Huin V, Barbier M, Durr A, Le Ber I. Huin V, et al. Brain. 2021 Apr 12;144(3):e28. doi: 10.1093/brain/awaa456. Brain. 2021. PMID: 33428710 No abstract available.

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Huin V, Barbier M, Bottani A, Lobrinus JA, Clot F, Lamari F, Chat L, Rucheton B, Fluchère F, Auvin S, Myers P, Gelot A, Camuzat A, Caillaud C, Jornéa L, Forlani S, Saracino D, Duyckaerts C, Brice A, Durr A, Le Ber I. Huin V, et al. Brain. 2020 Jan 1;143(1):303-319. doi: 10.1093/brain/awz377. Brain. 2020. PMID: 31855245