期刊名称：International Journal of Psychological Research
印刷版ISSN：2011-7922
电子版ISSN：2011-2084
出版年度：2010
卷号：3
期号：2
页码：55-62
语种：English
出版社：Universidad De Sanbuenaventura
摘要：En Antioquia (Colombia) hay reportadas cuatro grandes familias afectadas con enfermedad de Parkinson Familiar Juvenil portadoras de la mutación C212Y en el gen Parkin.Aunque se han descrito una serie de alteraciones cognitivas asociadas a la enfermedad de Parkinson idiopático y de inicio tardío, apenas se ha prestado atención en la literatura a la descripción de los perfiles neuropsicológicos en familias portadoras de mutaciones de genes asociados al Parkinson de inicio juvenil. En el presente estudio se seleccionó un grupo de 10 sujetos con diagnóstico clínico y molecular de enfermedad de Parkinson portadores de la mutación C212Y y un grupo de 10 familiares sanos (no portadores). En el ámbito neuropsicológico se evidencian diferencias estadísticamente significativas entre los grupos (p
其他摘要：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.
