Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
G2019S LRRK2 mutation causing Parkinson’s disease without Lewy bodies
1 Hospital Clínic i Universitari de Barcelona, Movement disorders Unit. Neurology Service, Villarroel 170, Barcelona, 08036, Spain
2 Universitat de Barcelona, Branc de Teixits Neurologics, Villarroel 170, Barcelona, 08036, Spain
Correspondence to:
mjmarti{at}clinic.ub.es
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 
-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
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Topic Collections
Bookmark with
Register for free content
The full text of all Editor's Choice articles and summaries of every article are free without registration
The full text of Images in ... articles are free to registered users
Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource
Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog
