G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies.
J Neurol Neurosurg Psychiatry
; 78(6): 626-8, 2007 Jun.
Article
em En
| MEDLINE
| ID: mdl-17210620
ABSTRACT
The G2019S leucine-rich repeat kinase 2 gene (LRRK2) mutation has been identified in a significant proportion of familial and sporadic cases of Parkinson's disease (PD). Until now, information on the neuropathological changes associated with the G2019S LRRK2 mutation has been sparse. We report a 77-year-old patient who presented with a 14 year history of PD but, unexpectedly, histopathological examination disclosed mild neuronal loss in the substantia nigra without alpha-synuclein, tau or ubiquitin cytoplasmic inclusions. A G2019S LRRK2 mutation was eventually detected. The present case confirms that clinical PD caused by G2019S mutations can be associated with non-specific nigral degeneration without Lewy bodies.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Parkinson
/
Proteínas Serina-Treonina Quinases
Tipo de estudo:
Prognostic_studies
Limite:
Aged
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article