Autosomal dominant Parkinson's disease caused by the recently identified LRRK2 N1437D mutation in a Chinese family: Clinical features, imaging findings, and functional impact.

Abstract excerpt

INTRODUCTION: Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of autosomal dominantly inherited Parkinson's disease (PD). Recently, a novel pathogenic variant (N1437D; c.4309A > G; NM_98578) in the LRRK2 gene has been identified in three Chinese families with PD. In this study, we describe a Chinese family with autosomal dominant PD that segregated with the N1437D mutation. A...

Topics

• Humans
• East Asian People
• GTP Phosphohydrolases
• Guanosine Triphosphate
• Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
• Mutation
• Parkinson Disease