El Grupo de Neurociencias de la Universidad de Antioquia reportó por primera vez en Colombia cuatro familias afecatas por la Enfermedad de Parkinson Familiar Juvenil portadoras de la mutación G736A en el gen Parkin.

In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. Many cognitive alterations associated with idiopathic, late-onset Parkinson´s disease have been described; however, little attention has been paid to the description of neuropsychological profiles in families carrying mutations in genes associated with juvenile Parkinson´s disease. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with the clinical and a group of molecular diagnosis of Parkinson´s disease, and ten healthy relatives as controls. The neuropsychological evaluation revealed statistically significant differences between the two groups (p < 0.05) in Minimental State Examination and in tests evaluating working memory and attention in which prolonged execution times and marked slowing down of information processing were observed. We suggest that the observed alterations could be considered as neuropsychological features of patients with the C212Y mutation in the Parkin gene, the phenotypic expression of which seems to be associated in this population with slow evolution, mild cognitive impairment and functional involvement.