Characterization of SNCA Multiplication in Parkinson's Disease: 2 New Cases and Evaluation of the Literature.

ABSTRACT:

Background

Alpha-synuclein (SNCA) copy number variations (CNV) have been certified as a causative mutation in patients with familial and sporadic Parkinson's disease (PD).

Case

We report three SNCA duplication cases diagnosed as PD. Through whole-exome sequencing, we identified a de novo 4.56 Mb repeated region in one patient and a 2.50 Mb repeated region in familial PD with two patients.

Literature review

In review of previous cases, we suggest that aggressive behavior is more remarkable in CNV4 patients. Meanwhile, frequency of cognition decline and dementia were slightly increased in CNV4 patients. We also illustrate a younger onset age in offspring than parent in familial SNCA multiplication PD cases. No difference was observed in disease dura

SUBMITTER: Duan RN 

PROVIDER: S-EPMC10585967 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature