Contents

LRRK2 G2019S

Disease Info

North African Arab populations	30-40% of PD cases, representing the highest known frequency. Studies in Tunisia, Morocco, and Algeria show particularly high carrier rates, suggesting a founder effect in this region[5].
Spanish Basque population	20-30% of PD cases, due to a founder effect traced to a common ancestor approximately 1,000 years ago.
European descent	1-5% of sporadic PD, 5-10% of familial PD. Most common in Southern European populations.
East Asian populations	0.5-2% of PD cases, with lower prevalence than in Caucasian populations. Japanese and Korean studies show distinct haplotype backgrounds.
North American populations	1-3% of PD cases, with representation across ethnic groups.
Increased autophosphorylation	LRRK2 undergoes increased autophosphorylation at Ser1292, a marker of kinase activity[9].
Altered substrate recognition	Enhanced activity toward physiological substrates including MyD88, TAK1, and ERK pathway components[10].
14-3-3 proteins	Bind to phosphorylated LRRK2, regulating its subcellular localization and stability
Databases	OMIM Orphanet ClinicalTrials PubMed

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