Clinical characteristics of PD patients with LRRK2 G2385R and R1628P variants

Dongxiao Liang; Li Shu; Hongxu Pan; Qian Xu; Jifeng Guo; Xinxiang Yan; Beisha Tang; Qiying Sun

doi:10.1016/j.neulet.2018.08.015

Clinical characteristics of PD patients with LRRK2 G2385R and R1628P variants

Neurosci Lett. 2018 Oct 15:685:185-189. doi: 10.1016/j.neulet.2018.08.015. Epub 2018 Aug 16.

Authors

Dongxiao Liang¹, Li Shu¹, Hongxu Pan¹, Qian Xu², Jifeng Guo³, Xinxiang Yan², Beisha Tang⁴, Qiying Sun⁵

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
² Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410078, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, China.
³ Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410078, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, China; Center for Medical Genetics, Central South University, Changsha, Hunan 410008, China; Parkinson's Disease Center of Beijing Institute for Brain Disorders, Beijing 100069, China.
⁴ Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410078, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, China; Center for Medical Genetics, Central South University, Changsha, Hunan 410008, China; Parkinson's Disease Center of Beijing Institute for Brain Disorders, Beijing 100069, China.
⁵ Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; National Clinical Research Center for Geriatric Disorders, Changsha, Hunan 410078, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, China. Electronic address: sunqiying2015@163.com.

PMID: 30121215
DOI: 10.1016/j.neulet.2018.08.015

Abstract

LRRK2 is the most common genetic cause of PD. G2385R and R1628 P variants are the most common variants of LRRK2 in Chinese populations. Consensus on the clinical features of G2385R and R1628 P related PD has not been reached yet, although it had been widely studied. In our study, genotype analyses were conducted on 721 PD patients of Chinese origin. A total of 62 G2385R carriers, 32 R1628 P carriers and 623 idiopathic PD patients underwent the following clinical feature analysis. Motor symptoms, non-motor symptoms and co-morbidities were the targeted features to be analyzed. As a result, Neither the G2385R nor the R1628 P carriers showed significant clinical feature differences when compared to the idiopathic PD patients, so did the comparison between the G2385R and the R1628 P carriers. In conclusion, the clinical features of PD patients with LRRK2 G2385R or R1628 P variants were similar to those of idiopathic PD.

Keywords: Clinical; LRRK2 G2385R; Parkinson’s disease; Phenotype; R1628P.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Aged
Aged, 80 and over
Asian People / genetics
Female
Genetic Predisposition to Disease*
Genotype
Heterozygote
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 / genetics*
Male
Middle Aged
Polymorphism, Single Nucleotide / genetics*
Protein Serine-Threonine Kinases / genetics*

Substances

LRRK2 protein, human
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Protein Serine-Threonine Kinases