Print

Print


Those Young Onset PDers wishing to participate in this study should contact
Amanda Singleton either at the email address or telephone number below.

John Cottingham

Scientists have just released news of a hereditary cause of Parkinson’s
disease (PD).  Abnormalities in a gene called DJ-1 (PARK7) were found in
patients with PD from two different families; one from a small village in
the Netherlands, and another from a small village in Italy.  These patients
had the hallmark PD signs (stiffness, slowing, tremor) but the symptoms
started earlier than  (average age of 31), and progressed very slowly
(average duration was 18 years.)

This finding will help scientists understand the biological chain of events
that lead to PD.  Genes are like the body’s blueprints or building plans for
constructing healthy proteins, cells, and other materials.  As with
blueprints for a building, if the blueprints for the human body have
mistakes (mutations), there is a good chance this will lead to structural
problems down the road.  Understanding these gene mutations and predicting
the consequences of these structural problems gives scientists and doctors
the ability to intervene with drug therapies.

Before scientists can begin developing interventions or treatments, there
are several questions to answer:
1.      How many patients with PD have abnormalities in DJ-1 (i.e., is it a
common or rare risk factor for PD)
2.      How many different DJ-1 abnormalities are there?
3.      Do DJ-1 abnormalities cause additional/different symptoms than typical PD?
4.      How “potent” are the abnormalities (i.e., will everyone who inherits a
DJ-1 abnormality get PD)

The Young Onset PD community can help us learn more about DJ-1 and about the
causes of PD by participating in our study at the NIH.  The study involves
answering some questions by phone or mail questionnaire, and donating a
blood sample (about 6 tablespoons).  Alternatively, we invite and encourage
individuals to come to NIH to participate in the study and for an evaluation
by a Parkinson’s disease specialist.  There are no costs to you, whether you
participate by mail or travel to NIH (we will reimburse all transportation
and lodging charges.)

If you are interested please contact:
Amanda Singleton
(301) 402-6231
[log in to unmask]

----------------------------------------------------------------------
To sign-off Parkinsn send a message to: mailto:[log in to unmask]
In the body of the message put: signoff parkinsn