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Published on: December 14, 2017
G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies
Carles Gaig1, María José Martí, Mario Ezquerra
1Movement Disorders Unit, Department of Neurology, Institut Clínic de Neurociències, Hospital Clínic i Universitari de Barcelona, Barcelona, Spain.
Journal of Neurology, Neurosurgery, and Psychiatry
|January 11, 2007
Summary
The G2019S leucine-rich repeat kinase 2 (LRRK2) mutation can cause Parkinson's disease (PD) without the typical Lewy body pathology. This case highlights non-specific nigral degeneration in PD patients with the G2019S LRRK2 mutation.
Area of Science:
- Neuroscience
- Genetics
- Pathology
Background:
- The G2019S mutation in the leucine-rich repeat kinase 2 (LRRK2) gene is a common cause of familial and sporadic Parkinson's disease (PD).
- Neuropathological data for PD associated with the G2019S LRRK2 mutation remains limited.
Observation:
- A 77-year-old patient with a 14-year history of PD was examined.
- Histopathological analysis revealed mild substantia nigra neuronal loss.
- Crucially, no alpha-synuclein, tau, or ubiquitin cytoplasmic inclusions (Lewy bodies) were detected.
Findings:
- The patient was found to harbor the G2019S LRRK2 mutation.
- This case demonstrates that clinical Parkinson's disease linked to the G2019S LRRK2 mutation can manifest with non-specific nigral degeneration.
- The absence of Lewy bodies challenges typical PD neuropathological definitions in this context.
Implications:
- The findings expand the understanding of LRRK2-associated Parkinson's disease neuropathology.
- Suggests that genetic factors (like LRRK2 mutations) can drive PD phenotypes with diverse pathological hallmarks.
- Highlights the importance of genetic testing in PD diagnosis, especially when histopathology is atypical.
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