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Updated: Jul 13, 2026
Human Peripheral Blood Neutrophil Isolation for Interrogating the Parkinson's Associated LRRK2 Kinase Pathway by Assessing Rab10 Phosphorylation
Published on: March 21, 2020
Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation
Janel Johnson1, Coro Paisán-Ruíz, Grisel Lopez
1Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA.
Background:
Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism.
Objective:
To identify mutations causing Parkinson's disease (PD) in a cohort of North Americans with familial PD.
Methods:
We sequenced exons 1-51 of LRRK2 in 79 unrelated North American PD patients reporting a family history of the disease.
Results:
One patient had a missense mutation (Thr2356Ile) while two others had the common Gly2019Ser mutation. In addition, 1 patient had a 4-bp deletion in close proximity to the exon 19 splice donor (IVS20+4delGTAA) that in vitro abrogates normal splicing.
Conclusions:
Our observations in the 79 North American patients indicate that mutations in LRRK2 are associated with approximately 5% of PD cases with a positive family history. The results also show that G2019S represents approximately half of the LRRK2 mutations in United States PD cases with a family history of the disease. We have identified two novel mutations in LRRK2.
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