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Case Reports
. 2007 Jun;78(6):626-8.
doi: 10.1136/jnnp.2006.107904. Epub 2007 Jan 8.

G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies

Carles Gaig  1 , María José Martí, Mario Ezquerra, Maria Jesús Rey, Adriana Cardozo, Eduardo Tolosa
Affiliations
Case Reports

G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies

Carles Gaig et al. J Neurol Neurosurg Psychiatry. 2007 Jun.

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.

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Conflict of interest statement

Competing interests: None.

References

    1. Paisán‐Ruiz C, Jain S, Evans E W.et al Cloning of the gene containing mutations that cause PARK8‐linked Parkinson's disease. Neuron 200444595–600. - PubMed
    1. Zimprich A, Biskup S, Leitner P.et al Mutations in LRRK2 cause autosomal‐dominant parkinsonism with pleomorphic pathology. Neuron 200444601–607. - PubMed
    1. Di Fonzo A, Tassorelli C, De Mari M.et al Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 200614322–331. - PubMed
    1. Nichols W C, Pankratz N, Hernandez D.et al Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005365410–412. - PubMed
    1. Gilks W P, Abou‐Sleiman P M, Gandhi S.et al A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 2005365415–416. - PubMed

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