Article
Clinical heterogeneity of LRRK2 p.I2012T mutation.
Parkinsonism & related disorders - 1 Dec 2016
Fan Tian-Sin, Wu Ruey-Meei, Chen Pei-Lung, Chen Ta-Fu, Li Huei-Ying, Lin Yin-Hung, Chen Chien-Yu, Chen Meng-Ling, Tai Chun-Hwei, Lin Hang-I, Lin Chin-Hsien
Abstract excerpt
INTRODUCTION: Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common genetic cause of Parkinson's disease (PD). However, only few cases carrying LRRK2 mutations have been reported in Taiwanese PD patients. METHODS: We used targeted next generation sequencing (NGS), covering 24 candidate genes involved in neurodegenerative disorders, to analyze 40 probands with familial PD, and 10 patients with mixed...
Topics
- Adult
- Age of Onset
- Aged
- Brain
- DNA Mutational Analysis
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Heterozygote
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2