Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 145-155 |
| Number of pages | 11 |
| Journal | Parkinsonism and Related Disorders |
| Volume | 5 |
| Issue number | 4 |
| DOIs | |
| State | Published - Dec 1999 |
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Keywords
- Idiopathic parkinsonism
- Parkinson's disease
- Parkinsonism-plus syndromes
ASJC Scopus subject areas
- Aging
- Clinical Neurology
- Neurology
Cite this
Molecular genetics of familial parkinsonism. / Wszolek, Zbigniew K; Markopoulou, K.
In: Parkinsonism and Related Disorders, Vol. 5, No. 4, 12.1999, p. 145-155.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular genetics of familial parkinsonism
AU - Wszolek, Zbigniew K
AU - Markopoulou, K.
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
VL - 5
SP - 145
EP - 155
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
IS - 4
ER -