Leucine-Rich Repeat Kinase 2 Gene-Associated Disease: Redefining Genotype-Phenotype Correlation
نویسندگان
چکیده
منابع مشابه
Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation.
BACKGROUND Leucine-rich repeat kinase 2 (LRRK2) has emerged as the most prevalent genetic cause of Parkinson's disease (PD) among Caucasians. Patients carrying an LRRK2 mutation display significant variability of clinical and pathologic phenotypes across and within affected families. METHODS Herein, we review available clinical and pathologic data on patients with an LRRK2 mutation who have c...
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Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) cause late-onset Parkinson's disease (PD) with a clinical appearance indistinguishable from idiopathic PD. Initial studies suggest that LRRK2 mutations are the most common yet identified determinant of PD susceptibility, transmitted in an autosomal-dominant mode of inheritance. Herein, we characterize the LRRK2 gene and transcript in hu...
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Patients with Parkinson's disease (PD) often require surgery, and therefore may receive inhalation anesthesia. However, it is currently unknown whether inhalation anesthetics affect the prognosis of the disease. Leucine‑rich repeat kinase 2 (LRRK2) genetic mutations are the most common cause of familial PD, contributing to ~39% of all cases in certain populations. The aim of the present study w...
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Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified as an important cause of late-onset, autosomal dominant familial Parkinson disease and contribute to sporadic Parkinson disease. LRRK2 is a large complex protein with multiple functional domains, including a Roc-GTPase, protein kinase, and multiple protein-protein interaction domains. Previous studies have suggested...
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There has been intense interest in leucine-rich repeat kinase 2 (LRRK2) since 2004, when mutations in the LRRK2 gene were discovered to cause dominantly inherited Parkinson's disease (PD). This article will address six basic questions about LRRK2 biology as it relates to PD, with particular emphasis on its discovery, current concepts of its physiological and pathological functions, and the stra...
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ژورنال
عنوان ژورنال: Neurodegenerative Diseases
سال: 2010
ISSN: 1660-2862,1660-2854
DOI: 10.1159/000289232