Parkinson’s disease(PD)is a prevalent neurodegenerative disorder mainly affecting the population over the age of 60 years.The past decade has seen rapidly emerging data supporting a major importance of genetic factor...Parkinson’s disease(PD)is a prevalent neurodegenerative disorder mainly affecting the population over the age of 60 years.The past decade has seen rapidly emerging data supporting a major importance of genetic factors in the development of PD.Increasing number of large-scale and replicating association studies has facilitated the confirmation of the possible predisposing factors to PD and the selection of genetic variants for risk prediction.While evidences are accumulating that variations within the SNCA,LRRK2,MAPT and GBA genes increase the individuals’vulnerability to PD,inconclusive or negative results have been reported for an association between PD and variants of the parkin,PINK1,DJ-1,UCH-L1,Omi/HtrA2,GIGYF2,PLA2G6,VPS35,EIF4G1 and BST1 genes.However,our understanding of the genetic picture of PD remains preliminary.Molecular diagnosis of the disease is only recommended for cases with clear family history,and currently,there is no ideal genomic biomarker available to predict the disease onset and progression,or to make a molecular classification of the disease.Efforts are expected to identify more genetic predisposing factors and to further clarify their roles in the mechanisms of PD.展开更多
The initial diagnosis of Parkinson's disease (PD) is currently based on a clinical assessment. Many patients who receive an initial diagnosis of PD have parkinsonian features related to other diseases such as essen...The initial diagnosis of Parkinson's disease (PD) is currently based on a clinical assessment. Many patients who receive an initial diagnosis of PD have parkinsonian features related to other diseases such as essential tremor, vascular parkinsonism and atypical parkinsonian disorder. It has been challenging to differentiate PD from those disorders, especially in the early disease stages, due to an overlap of clinical signs and symptoms. Therefore, there is a great need for development of noninvasive, highly sensitive, and widely available imaging methods that can potentially be used to assistant physicians to make more accurate diagnosis of the disease; and to longitudinally monitor treatment of PD. Recent advance of pharmacological MRI (phMRI) technology allows non-invasively mapping functional stages for nigrostriatal dopamine (DA) system. This article aims to review research findings primarily from our group in nonhuman primates modeling the neurodegenerative disease on the value of phMRI techniques in the diagnosis of PD.展开更多
基金This study was supported by grants from National Natural Science Foundation of China(No.81371320)the Project for Young and Middle-Aged Talents of Fujian Health Care System,No.2013-ZQN-JC-29 to Dr.Chao-Dong Wang,and the Ministry of Science and Technology of China(2012AA02A514)the National Basic Research Development Program of China(2011CB504101)to Dr.Piu Chan.
文摘Parkinson’s disease(PD)is a prevalent neurodegenerative disorder mainly affecting the population over the age of 60 years.The past decade has seen rapidly emerging data supporting a major importance of genetic factors in the development of PD.Increasing number of large-scale and replicating association studies has facilitated the confirmation of the possible predisposing factors to PD and the selection of genetic variants for risk prediction.While evidences are accumulating that variations within the SNCA,LRRK2,MAPT and GBA genes increase the individuals’vulnerability to PD,inconclusive or negative results have been reported for an association between PD and variants of the parkin,PINK1,DJ-1,UCH-L1,Omi/HtrA2,GIGYF2,PLA2G6,VPS35,EIF4G1 and BST1 genes.However,our understanding of the genetic picture of PD remains preliminary.Molecular diagnosis of the disease is only recommended for cases with clear family history,and currently,there is no ideal genomic biomarker available to predict the disease onset and progression,or to make a molecular classification of the disease.Efforts are expected to identify more genetic predisposing factors and to further clarify their roles in the mechanisms of PD.
文摘The initial diagnosis of Parkinson's disease (PD) is currently based on a clinical assessment. Many patients who receive an initial diagnosis of PD have parkinsonian features related to other diseases such as essential tremor, vascular parkinsonism and atypical parkinsonian disorder. It has been challenging to differentiate PD from those disorders, especially in the early disease stages, due to an overlap of clinical signs and symptoms. Therefore, there is a great need for development of noninvasive, highly sensitive, and widely available imaging methods that can potentially be used to assistant physicians to make more accurate diagnosis of the disease; and to longitudinally monitor treatment of PD. Recent advance of pharmacological MRI (phMRI) technology allows non-invasively mapping functional stages for nigrostriatal dopamine (DA) system. This article aims to review research findings primarily from our group in nonhuman primates modeling the neurodegenerative disease on the value of phMRI techniques in the diagnosis of PD.