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...
- Autores:
-
Moreno, Sonia
Buriticá, Omar
Franco, Alejandro
Pineda, Nicolás
Arias, William
Sepúlveda, Diego
Aguirre, Camilo
Tamayo, William
Uribe, Santiago
Bedoya, Gabriel
Ruiz-Linares, Andrés
Lopera, Francisco
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2010
- Institución:
- Universidad de San Buenaventura
- Repositorio:
- Repositorio USB
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.usb.edu.co:10819/25691
- Acceso en línea:
- https://hdl.handle.net/10819/25691
https://doi.org/10.21500/20112084.812
- Palabra clave:
- Cognitive alterations
Familial Parkinson´s disease
Juvenile Parkinson´s disease
MutationC212Y
Parkin gene.
- Rights
- openAccess
- License
- International Journal of Psychological Research - 2010
| Summary: | 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. |
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