Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.
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 des...
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Universidad de San Buenaventura
2010
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oai:doaj.org-article:0b6d7780df144264ab1e56eb190e9ffe2021-11-25T02:23:52ZCognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.10.21500/20112084.8122011-20842011-7922https://doaj.org/article/0b6d7780df144264ab1e56eb190e9ffe2010-12-01T00:00:00Zhttps://revistas.usb.edu.co/index.php/IJPR/article/view/812https://doaj.org/toc/2011-2084https://doaj.org/toc/2011-7922In 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.Sonia MorenoOmar BuriticáAlejandro FrancoNicolás PinedaWilliam AriasDiego SepúlvedaCamilo AguirreWilliam TamayoSantiago UribeGabriel BedoyaAndrés Ruiz-LinaresFrancisco LoperaUniversidad de San BuenaventuraarticleCognitive alterationsFamilial Parkinson´s diseaseJuvenile Parkinson´s diseaseMutationC212YParkin gene.PsychologyBF1-990ENESInternational Journal of Psychological Research, Vol 3, Iss 2 (2010) |
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DOAJ |
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DOAJ |
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EN ES |
| topic |
Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene. Psychology BF1-990 |
| spellingShingle |
Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene. Psychology BF1-990 Sonia Moreno Omar Buriticá Alejandro Franco Nicolás Pineda William Arias Diego Sepúlveda Camilo Aguirre William Tamayo Santiago Uribe Gabriel Bedoya Andrés Ruiz-Linares Francisco Lopera Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. |
| description |
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. |
| format |
article |
| author |
Sonia Moreno Omar Buriticá Alejandro Franco Nicolás Pineda William Arias Diego Sepúlveda Camilo Aguirre William Tamayo Santiago Uribe Gabriel Bedoya Andrés Ruiz-Linares Francisco Lopera |
| author_facet |
Sonia Moreno Omar Buriticá Alejandro Franco Nicolás Pineda William Arias Diego Sepúlveda Camilo Aguirre William Tamayo Santiago Uribe Gabriel Bedoya Andrés Ruiz-Linares Francisco Lopera |
| author_sort |
Sonia Moreno |
| title |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. |
| title_short |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. |
| title_full |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. |
| title_fullStr |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. |
| title_full_unstemmed |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene. |
| title_sort |
cognitive alterations in juvenile parkinson´s disease caused by the c212y mutation in the parkin gene. |
| publisher |
Universidad de San Buenaventura |
| publishDate |
2010 |
| url |
https://doaj.org/article/0b6d7780df144264ab1e56eb190e9ffe |
| work_keys_str_mv |
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