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Parkinson's disease associated with LRRK2-R1441C mutation: Characterization and comparison with other LRRK2 mutations

Rafi Hadad1,2,3, Roy N Alcalay4,5,6, Inna Senderova2

  • 1Department of Neurology, Stroke and Cognition Institute, Haifa, Israel.

Journal of Parkinson'S Disease
|July 4, 2025
PubMed

Insights

Parkinson's disease (PD) R1441C mutation carriers show distinct, severe symptoms. Understanding genetic diversity in PD research, particularly the R1441C variant, is crucial for future studies.

Area of Science:

  • Neuroscience
  • Genetics
  • Medical research

Background:

  • Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are linked to Parkinson's disease (PD).
  • Specific LRRRK2 variants, like R1441C, G2019S, and R1441G, are associated with different PD subtypes.
  • The clinical characteristics of R1441C mutation carriers are not well understood.

Purpose of the Study:

  • To compare the clinical phenotype of Parkinson's disease patients carrying the LRRRK2 R1441C mutation with those carrying the G2019S and R1441G variants.
  • To investigate the impact of ethnic background on LRRRK2 mutation carriers with Parkinson's disease.

Main Methods:

  • Comparative clinical study of Parkinson's disease patients.
  • Stratification of patients based on LRRRK2 mutation status (R1441C, G2019S, R1441G) and ethnicity.
  • Assessment of motor and non-motor symptoms, including cognitive function using the Montreal Cognitive Assessment.

Main Results:

  • LRRK2 R1441C mutation carriers, predominantly of Israeli Arab descent, presented with a distinct clinical phenotype.
  • These patients exhibited more severe motor and non-motor symptoms compared to carriers of other LRRRK2 variants.
  • R1441C carriers also showed poorer performance on the Montreal Cognitive Assessment.

Conclusions:

  • The LRRRK2 R1441C mutation is associated with a unique and severe clinical presentation in Parkinson's disease.
  • Ethnic diversity plays a significant role in the manifestation of LRRRK2-associated Parkinson's disease.
  • Further research with larger, diverse patient cohorts is necessary to confirm these findings and their implications for PD research and treatment.
Keywords:
LRRK2 proteinParkinson’s diseasecognitive dysfunctiongenetic variationhumanmutation

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