Lrrk2 G2019S substitution in frontotemporal lobar degeneration with ubiquitin-immunoreactive neuronal inclusions.
Acta Neuropathol
; 113(5): 601-6, 2007 May.
Article
em En
| MEDLINE
| ID: mdl-17151837
ABSTRACT
Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. To determine if LRRK2 mutations might be involved in frontotemporal dementia (FTD), 5 individuals with multiplex familial FTD kindreds and 41 pathologically confirmed cases of FTD, including 23 with a family history of dementia, were screened for genetic variations in the LRRK2 gene. We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. These findings may be coincidental; however, there is a small nucleus of LRRK2-positive patients displaying atypical features suggesting a role for this protein in other neurodegenerative disorders.
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Base de dados:
MEDLINE
Assunto principal:
Corpos de Inclusão
/
Proteínas Serina-Treonina Quinases
/
Substituição de Aminoácidos
/
Ubiquitina
/
Demência
/
Neurônios
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article