TY - JOUR
T1 - Molecular genetics of familial parkinsonism
AU - Wszolek, Z. K.
AU - Markopoulou, K.
N1 - Funding Information:
We wish to thank our patients for their encouragement and continuous support through the many years of our research. We also thank our colleagues who have participated in our studies, particularly Drs R.F. Pfeiffer, D.B. Calne, R.L. Rodnitzky, and M.D. Muenter. We thank Dr B. Chase for critically reading this manuscript. Ms T. Bailey provided excellent assistance in the preparation of this manuscript. Z.K. Wszolek is supported by Mayo Clinic Jacksonville internal funds and K. Markopoulou by funds from the National Parkinson Foundation.
PY - 1999/12
Y1 - 1999/12
N2 - Parkinson's disease (PD) is a progressive, neurodegenerative disorder associated with tremor, rigidity, bradykinesia, and postural instability. There exists a familial form of PD that is indistinguishable from the sporadic form. In addition, there exists a class of syndromes classified as parkinsonism-plus syndromes (PPS), in which parkinsonism is an essential but not the only phenotypic characteristic. The etiology of PD remains unclear. Both environmental and genetic factors contribute to the disease pathogenesis. Recent progress in the molecular genetics of parkinsonism has demonstrated that six different chromosomal regions are associated with forms of familial parkinsonism. Mutations in four candidate genes have been identified and include both point mutations and deletions. Both gain-of-function and loss-of-function mutational mechanisms have been implicated. The molecular genetic characterization has led to a new classification of PD and PPS based on the type of genetic defect. Understanding the mechanisms by which these mutations lead to disease should provide further insights into the etiology of parkinsonism. Copyright (C) 1999 Elsevier Science Ltd.
AB - Parkinson's disease (PD) is a progressive, neurodegenerative disorder associated with tremor, rigidity, bradykinesia, and postural instability. There exists a familial form of PD that is indistinguishable from the sporadic form. In addition, there exists a class of syndromes classified as parkinsonism-plus syndromes (PPS), in which parkinsonism is an essential but not the only phenotypic characteristic. The etiology of PD remains unclear. Both environmental and genetic factors contribute to the disease pathogenesis. Recent progress in the molecular genetics of parkinsonism has demonstrated that six different chromosomal regions are associated with forms of familial parkinsonism. Mutations in four candidate genes have been identified and include both point mutations and deletions. Both gain-of-function and loss-of-function mutational mechanisms have been implicated. The molecular genetic characterization has led to a new classification of PD and PPS based on the type of genetic defect. Understanding the mechanisms by which these mutations lead to disease should provide further insights into the etiology of parkinsonism. Copyright (C) 1999 Elsevier Science Ltd.
KW - Idiopathic parkinsonism
KW - Parkinson's disease
KW - Parkinsonism-plus syndromes
UR - http://www.scopus.com/inward/record.url?scp=0032820366&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032820366&partnerID=8YFLogxK
U2 - 10.1016/S1353-8020(99)00030-9
DO - 10.1016/S1353-8020(99)00030-9
M3 - Article
C2 - 18591133
AN - SCOPUS:0032820366
SN - 1353-8020
VL - 5
SP - 145
EP - 155
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
IS - 4
ER -