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Internationally recognized biomedical investigators describe in detail the major techniques employed in molecular and cellular studies of Parkinson's disease and basal ganglia function. Widely varied methods are covered, including genetic analyses, molecular pathogenetic investigations of dopaminergic neuronal degeneration, biochemical studies of nigro-striatal neural circuitry, and molecular therapies, such as gene therapy and neural stem cells. Comprehensive and timely, Parkinson's Disease: Methods and Protocols offers scientists and clinicians interested in Parkinson's and related neurodegenerative disorders the major cutting-edge methods-in a readily reproducible format-needed to effectively exploit the potential of cell and molecular biology for elucidating disease mechanisms and for speeding the emergence of novel and more effective therapeutics.
E-Book Content
M E T H O D S I N M O L E C U L A R M E D I C I N E TM
Parkinson’s Disease Methods and Protocols Edited by
M. Maral Mouradian, MD
Humana Press
Parkinson’s Disease and α-Synuclein
3
1 Point Mutations in the α-Synuclein Gene Abbas Parsian and Joel S. Perlmutter 1. Introduction Idiopathic Parkinson’s disease (PD) is an age-dependent, neurodegenerative disorder and is predominantly sporadic. Only 20–30% of patients have a positive family history for PD with a complex mode of inheritance. In a few extended families, the disease is inherited as an autosomal dominant trait. Linkage to chromosome 4 was reported in a large Italian kindred multiply affected by an early-onset form of PD (1). However, this finding was not replicated in a sample of 94 Caucasian families by Scott et al. (2), or in 13 multigenerational families by Gasser et al. (3). It has recently been demonstrated that a mutation within the a-synuclein gene on chromosome 4 segregates with disease in the