Open AccessCognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
Author(s) -
Sonia Moreno,
Omar Buriticá,
Alejandro Franco,
Nicolás Pineda,
William Arias,
Diego Sepúlveda,
Carlos Aguirre,
William Tamayo,
Santiago Uribe,
Gabriel Bedoya,
Andrés RuizLinares,
Francisco Lopera
Publication year - 2010
Publication title -
international journal of psychological research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.23
H-Index - 11
eISSN - 2011-7922
pISSN - 2011-2084
DOI - 10.21500/20112084.812
Subject(s) - parkin , neuropsychology , parkinson's disease , disease , mutation , juvenile , psychology , cognition , population , gene mutation , genetics , medicine , neuroscience , gene , biology , environmental health
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.