Mutation in the α-synuclein gene identified in families with Parkinson's disease

MH Polymeropoulos, C Lavedan, E Leroy, SE Ide… - science, 1997 - science.org
MH Polymeropoulos, C Lavedan, E Leroy, SE Ide, A Dehejia, A Dutra, B Pike, H Root…
science, 1997science.org
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 …
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.
AAAS