Chaired
by:
John Hardy, NIA
Balcony C, Natcher
Conference Center
Parkinson's disease is the second most common
neurodegenerative disorder afflicting about
500,000 Americans. Many, but not all of the
clinical features are caused by loss of dopamine
neurons from the substantial nigra. Until
recently, the causes of the disease were
not known, but over the last 7 years a series
of genetic findings have revealed that point
mutations in and locus multiplications of
the alpha-synuclein gene are one cause of
the disease in an autosomal dominant fashion
and that recessive mutations in parkin, DJ-1
and PINK1 cause recessive parkinsonism. In
this session, these discoveries will be in
terms of the precise clinical syndrome, and
the etiology of the "typical" form
of the disease which shows no clear familial
clustering. The possibility that all four
of these genes map one specific pathway for
cell death in the nigra will be critically
discussed and the possible functions of the
four genes described. Program
The Clinical Syndrome
Katrina Gwinn Hardy,
NINDS
The Genetics of PD
Andy Singleton, NIA
The Functions of Synuclein
Bob Nussbaum,
NHGRI
Aggregation of Synuclein
Nelson Cole, NHGRI
The Functions
of the Recessive Genes of Parkinsonism
Mark Cookson, NIA
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