مقاله انگلیسی رایگان در مورد ویژگی های بیماری پارکینسون در حامل های LRRK2 G2019S – الزویر ۲۰۱۸

مقاله انگلیسی رایگان در مورد ویژگی های بیماری پارکینسون در حامل های LRRK2 G2019S – الزویر ۲۰۱۸

 

مشخصات مقاله
ترجمه عنوان مقاله ویژگی های حرکتی و غیر حرکتی بیماری پارکینسون در حامل های LRRK2 G2019S در مقابل مطالعات مشهود
عنوان انگلیسی مقاله Motor and non-motor features of Parkinson’s disease in LRRK2 G2019S carriers versus matched controls
انتشار مقاله سال ۲۰۱۸
تعداد صفحات مقاله انگلیسی ۱۹ صفحه
هزینه دانلود مقاله انگلیسی رایگان میباشد.
پایگاه داده نشریه الزویر
نوع نگارش مقاله
مقاله کوتاه (Short Communication)
مقاله بیس این مقاله بیس نمیباشد
نمایه (index) scopus – master journals – JCR – MedLine
نوع مقاله ISI
فرمت مقاله انگلیسی  PDF
ایمپکت فاکتور(IF)
۲٫۴۴۸ در سال ۲۰۱۷
شاخص H_index ۱۲۰ در سال ۲۰۱۸
شاخص SJR ۱٫۰۰۲ در سال ۲۰۱۸
رشته های مرتبط پزشکی
گرایش های مرتبط روانپزشکی، مغز و اعصاب
نوع ارائه مقاله
ژورنال
مجله / کنفرانس مجله علوم اعصاب – Journal of the Neurological Sciences
دانشگاه University Hospitals Cleveland Medical Center – Case Western Reserve University School of Medicine – USA
کلمات کلیدی کیناز ۲ غنی از لوسین، غالب اتوزومال؛ بیماری پارکینسون؛ ویژگی های موتور؛ ویژگی های غیر موتور؛ شناخت
کلمات کلیدی انگلیسی leucine-rich repeat kinase 2, autosomal dominant; Parkinson’s disease; motor features; non-motor features; cognition
شناسه دیجیتال – doi
https://doi.org/10.1016/j.jns.2018.03.025
کد محصول E10446
وضعیت ترجمه مقاله  ترجمه آماده این مقاله موجود نمیباشد. میتوانید از طریق دکمه پایین سفارش دهید.
دانلود رایگان مقاله دانلود رایگان مقاله انگلیسی
سفارش ترجمه این مقاله سفارش ترجمه این مقاله

 

فهرست مطالب مقاله:
Highlights
Abstract
Keywords
۱ Introduction
۲ Materials and methods
۳ Results
۴ Discussion
Contributions
Declarations of interest
Acknowledgements
References

بخشی از متن مقاله:
Abstract

Introduction: LRRK2 G2019S mutation carriers with Parkinson’s disease (PD) have been generally indistinguishable from those with idiopathic PD, with the exception of variable differences in some motor and non-motor domains, including cognition, gait, and balance. LRRK2 G2019S is among the most common genetic etiologies for PD, particularly in Ashkenazi Jewish (AJ) populations. Methods: This cross-sectional data collection study sought to clarify the phenotype of LRRK2 G2019S mutation carriers with PD. Primary endpoints were the Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS) and Montreal Cognitive Assessment (MoCA). Other motor and non-motor data were also assessed. The Mann-Whitney U Test was utilized to compare LRRK2 G2019S carriers with PD (LRRK2+) with non-carrier PD controls who were matched for age, gender, education, and PD duration. Survival analyses and log rank tests were utilized to compare interval from onset of PD to development of motor and non-motor complications. Results: We screened 251 subjects and 231 completed the study, of whom 9 were LRRK2+, including 7 AJ subjects. 22.73% of AJ subjects with a family history of PD (FH) and 12.96% of AJ subjects without a FH were LRRK2+. There were no significant differences between the 9 LRRK2+ subjects and 19 matched PD controls in MDS-UPDRS, MoCA, or other motor and non-motor endpoints. Conclusion: Prevalence of the LRRK2 G2019S mutation in AJ and non-AJ subjects in our study population in Cleveland, Ohio was comparable to other clinical studies. There were no significant motor or non-motor differences between LRRK2+ PD and matched PD controls.

Introduction

The autosomal dominant G2019S mutation in the leucine-rich repeat kinase 2 (LRRK2) gene is among the most common genetic mutations associated with PD.[1] This mutation is responsible for 4% of familial PD and 1% of sporadic cases of PD,[2] with a higher frequency of up to 18% of PD in Ashkenazi Jews (and up to 30% of familial cases).[3] The clinical manifestations of PD in LRRK2 mutation carriers were generally similar to those of sporadic PD,[4, 5] although some studies found a milder motor phenotype in carriers.[2, 6] Some authors found that G2019S carriers were more likely to display the postural instability-gait difficulty (PIGD) phenotype with falls.[7, 8] The International LRRK2 Consortium found a higher incidence of tremor as the presenting symptom, prevalence of dystonia, slower motor progression, and lower incidence of cognitive impairment in carriers.[2] Some authors,[9, 10] but not others,[11-14] found less cognitive impairment in G2019S carriers compared to non-carriers with PD. This cross-sectional data collection study sought to compare motor Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS), Montreal Cognitive Assessment (MoCA), and other characteristics between LRRK2 G2019S-positive subjects and matched PD controls without the mutation recruited from an academic medical center in Cleveland, Ohio.

ثبت دیدگاه