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Article . 1997 . Peer-reviewed
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Article . 1997
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Authors: POLYMEROPOULOS MH; LAVEDAN C; LEROY E; IDE SE; DEHEJIA A; DUTRA A; PIKE B; +13 Authors

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported that a PD susceptibility gene in a large Italian kindred is located on the long arm of human chromosome 4. A mutation was identified in the α-synuclein gene, which codes for a presynaptic protein thought to be involved in neuronal plasticity, in the Italian kindred and in three unrelated families of Greek origin with autosomal dominant inheritance for the PD phenotype. This finding of a specific molecular alteration associated with PD will facilitate the detailed understanding of the pathophysiology of the disorder.

Country
Italy
Keywords

Genetic Markers, Male, Base Sequence, Greece, Molecular Sequence Data, Chromosome Mapping, Nerve Tissue Proteins, Parkinson Disease, Polymerase Chain Reaction, Pedigree, Phenotype, Italy, Animals, Humans, Point Mutation, Female, Amino Acid Sequence, Age of Onset, Chromosomes, Human, Pair 4, Genes, Dominant

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
downloads
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8K
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91
329
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