Characterization of Recessive Parkinson Disease in a Large Multicenter Study.

Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.

Persistent Müllerian duct syndrome with torsion of a transverse testicular ectopia: first reported case.

Persistent Müllerian duct syndrome with transverse testicular ectopia is a rare pathologic association. A 7-month-old boy was admitted to the emergency department with a right testicular swelling. Physical examination revealed a tender right testis, the upper limits of which could not be palpated.