与LRRK2- r1441c突变相关的帕金森病：表征和与其他LRRK2突变的比较

IF 4 3区医学 Q2 NEUROSCIENCES

Journal of Parkinson's disease Pub Date : 2025-07-04 DOI:10.1177/1877718X251354986

Rafi Hadad, Roy N Alcalay, Inna Senderova, Maria Nassar, Andjelika Milicic, Judith Aharon Peretz, Isabel Elaine Allen, Rachel Ben-Hayun, Natalia Chasnyk, Ilham Morani, Nadav Elkoshi, Victor Valcour, Ilana Schlesinger

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引用次数: 0

摘要

富亮氨酸重复激酶2 （LRRK2）基因突变与家族性和散发性帕金森病（PD）有关。虽然已经研究了各种LRRK2等位基因变异，但R1441C携带者的特征仍未得到充分研究。我们将携带R1441C突变（90%的以色列阿拉伯人）的PD患者与携带G2019S（70%的德系犹太人）和R1441G（42%的巴斯克人）突变的PD患者进行了比较。R1441C携带者表现出明显的临床表型，以严重的运动和非运动症状为特征，在蒙特利尔认知评估中得分较差。这些发现突出了种族多样性和遗传分层在帕金森病研究中的重要性。这些结果需要在更大、更多样化的样本中得到证实。

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

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene associate with familial and sporadic Parkinson's disease (PD). While various LRRK2 allelic variants have been studied, characteristics of R1441C carriers remain underexplored. We compared PD patients carrying the R1441C mutation (90% Israeli Arabs) to those carrying the G2019S (70% Ashkenazi Jews) and R1441G (42% Basque) variants. R1441C carriers exhibited a distinct clinical phenotype characterized by severe motor and non-motor symptoms and worse scores on the Montreal Cognitive Assessment. These findings highlight the importance of ethnic diversity and genetic stratification in PD research. These results need confirmation in larger, more diverse samples.

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来源期刊

Journal of Parkinson's disease NEUROSCIENCES-

CiteScore

8.40

自引率

5.80%

发文量

338

审稿时长

>12 weeks

期刊介绍： The Journal of Parkinson''s Disease (JPD) publishes original research in basic science, translational research and clinical medicine in Parkinson’s disease in cooperation with the Journal of Alzheimer''s Disease. It features a first class Editorial Board and provides rigorous peer review and rapid online publication.