Early-onset Parkinson's disease with atypical molecular imaging abnormalities in a patient carrying the de novo PRKCG mutation

Yueting Chen; Peng Liu; Zhidong Cen; Yi Liao; Zhiru Lin; Wei Luo

doi:10.1016/j.parkreldis.2022.01.020

Early-onset Parkinson's disease with atypical molecular imaging abnormalities in a patient carrying the de novo PRKCG mutation

Parkinsonism Relat Disord. 2022 Feb:95:100-102. doi: 10.1016/j.parkreldis.2022.01.020. Epub 2022 Jan 22.

Authors

Yueting Chen¹, Peng Liu¹, Zhidong Cen¹, Yi Liao², Zhiru Lin¹, Wei Luo³

Affiliations

¹ Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
² Department of Nuclear Medicine and PET-CT Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
³ Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: luoweirock@zju.edu.cn.

PMID: 35091391
DOI: 10.1016/j.parkreldis.2022.01.020

Abstract

Cerebellar ataxia and parkinsonism are two common overlapping clinical syndromes in patients with spinocerebellar ataxia. We report a case mimicking the phenotype of early-onset Parkinson's disease with a candidate novel de novo mutation (c.1151A>G, p.K384R) in PRKCG, a gene known to cause spinocerebellar ataxia type 14.

Keywords: De novo; MRI; PET; PRKCG; Parkinson's disease; Spinocerebellar ataxia type 14.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Humans
Molecular Imaging
Mutation
Parkinson Disease* / diagnostic imaging
Parkinson Disease* / genetics
Protein Kinase C* / genetics
Spinocerebellar Ataxias* / genetics

Substances

protein kinase C gamma
Protein Kinase C