Mihael H. Polymeropoulos,
*
Christian Lavedan,
Elisabeth Leroy,
Susan E. Ide,
Anindya Dehejia,
Amalia Dutra,
Brian Pike,
Holly Root,
Jeffrey Rubenstein,
Rebecca Boyer,
Edward S. Stenroos,
Settara Chandrasekharappa,
Aglaia Athanassiadou,
Theodore Papapetropoulos,
William G. Johnson,
Alice M. Lazzarini,
Roger C. Duvoisin,
Giuseppe Di Iorio,
Lawrence I. Golbe,
Robert
L. Nussbaum
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 
-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.
M. H. Polymeropoulos, C. Lavedan, E. Leroy, S. E. Ide, A. Dehejia,
J. Rubenstein, R. Boyer, R. L. Nussbaum, Laboratory of Genetic Disease
Research, National Human Genome Research Institute, National Institutes
of Health, Bethesda, MD 20892-1430, USA.
S. Chandrasekharappa, B. Pike, H. Root, A. Dutra, Laboratory of Gene
Transfer, National Human Genome Research Institute, National Institutes
of Health, Bethesda, MD 20892-1430, USA.
L. I. Golbe, W. G. Johnson, E. S. Stenroos, R. C. Duvoisin, A. M. Lazzarini, University of Medicine and Dentistry of New Jersey, Robert
Wood Johnson Medical School, Piscataway, NJ 08854, USA.
G. Di Iorio, Instituto di Scienze Neurologiche, Faculta di Medicina,
Seconda Universita degli Studi di Napoli, Naples, Italy.
T. Papapetropoulos and A. Athanassiadou, University of Patras Medical
School, Patras, Greece.
*
To whom correspondence should be addressed.
These authors contributed equally in this work.
-Synuclein Gene Identified in Families with Parkinson's Disease
