Background: Several genetic variants in transcription factor genes have been reported to be associated with Parkinson's disease (PD). The muscle segment homeobox drosophila homolog of 1 gene (MSX1) is a major upstream regulator of the dopaminergic neuronal subtype specification.
Aims of the study: To determine whether genetic variation in the coding region of the MSX1 gene plays a role in the etiology of PD.
Methods: We searched for genetic variations in the coding region of the MSX1 gene in 202 patients with PD and 200 normal controls by PCR-single-strand conformation polymorphism (PCR-SSCP) and sequencing.
Results: No mutation in the MSX1 gene was identified in our cohort.
Conclusions: Mutations in the coding region of the MSX1 gene play little or no role in the development of PD.