Parkinsonism, Lrrk2 G2019S, and tau neuropathology.
case_report · Level V
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Abstract
Lrrk2 G2019S is predominantly associated with alpha-synuclein-immunopositive Lewy body pathology. We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology. Thus alpha-synucleinopathy and tauopathy, the predominant pathologies associated with parkinsonism, may be alternate outcomes of the same underlying genetic cause. Intriguingly, we observe no evidence of a direct interaction between either the tau or alpha-synuclein protein with Lrrk2.
Medical subject headings
- Mutation
- Neurofibrillary Tangles
- Parkinsonian Disorders
- Protein Serine-Threonine Kinases
- tau Proteins