Early-onset Parkinson's disease with atypical molecular imaging abnormalities in a patient carrying the de novo PRKCG mutation. (February 2022)

• Record Type: Journal Article
• Authors: Chen, Yueting; Liu, Peng; Cen, Zhidong; Liao, Yi; Lin, Zhiru; Luo, Wei
• Is Part Of: Parkinsonism & related disorders. Volume 95(2022)
• Page Start: 100
• Page End: 102
• Publication Date: 2022-02
• Subjects: Spinocerebellar ataxia type 14 -- PRKCG -- Parkinson's disease -- PET -- MRI -- De novo; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2022.01.020
• Languages: English
• ISSNs: 1353-8020

Abstract

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.