A Genetic Epidemiological study of young onset Parkinson's Disease in
Ireland
Dr. Tim Lynch B.Sc., FRCPI, MRCP (Lond), Consultant Neurologist, Mater
Misericordiae and Beaumont Hospitals, Dublin - Principal Investigator
Joseph Wiley MRCPI - Research Registrar

Summary
Parkinson's Disease (PD), a progressive neurodegenerative disorder,
affects 5-6000 people in Ireland. It results in tremor, slowness,
stiffness, poor balance and significant disability. Loss of dopamine
producing nerve cells occurs within the brain stem. The best form of
treatment is replacement of dopamine, this results in dramatic temporary
improvement as shown in the movie Awakenings. Dopamine replacement is
often only effective for five years and does not arrest the disorder.
Why do dopamine producing nerve cells die off? This has been the holy
grail of PD research for the last 30 years. Initial work suggested that
environmental toxins were solely responsible for PD. Recent work
supports the concept that both genetic and environmental factors are
responsible for a cascade of events that lead to nerve cell death.
Mutations in two genes, a-synuclein and Parken, result in Parkinsonism.
The recognition that mutations in these genes can result in a loss of
dopamine-producing nerve cells in parkinsonism resulted in a reappraisal
of the causes of PD. It led to a deeper understanding of the mechanism
of brain cell death and may result in preventative and restorative
therapy. However, these mutations in these genes only account for a
small percentage of the genes involved in PD. Studies of other families
with PD is therefore of critical importance.
Mutation in both genes result in loss of the dopamine producing
brainstem cells in young onset Parkinson's disease (YOPD). Over 25% of
patients develop PD before the age of 60. YOPD (onset before 60)
commonly has a genetic cause. Therefore the YOPD population in Ireland
is an ideal group to study the genetic contribution to PD. It is
possible that studying this population in Ireland may result in the
identification of new PD genes.
A genetic epidemiological study of PD of a population has not been done.
Such a study will provide critical scientific data of population
demographics and genetics of PD. Ireland is an excellent site for such
an important study because of its stable gene pool, large family units,
relatively small size, and active PD support groups. In addition there
are few neurologists or geriatricians allowing easier identification of
YOPD patients.
Methodology
Patients with early-onset PD (before the age of 60) in Ireland will be
identified. Drs Lynch and Wiley will contact the Parkinson's disease
Association and PALS support groups to request they notify their members
of the study. Drs Lynch and Wiley will present a number of presentations
regarding PD to the Parkinson's support groups explaining the study. All
concerns raised will be addressed. Any member interested in partaking
will be contacted and assessed following notification of their general
practitioner and specialist. In addition, all neurologists and
geriatricians will be contacted requesting they complete and return an
enclosed simple demographic form listing their patients with PD. Written
informed consent from all patients involved in the study will be
obtained emphasising this is a voluntary research study.
The demographic, clinical and genetic data will be entered into a
secure, confidential database. A small sample of blood will be drawn and
DNA extracted, coded and stored in a secure -20 C freezer. The DNA will
be labeled with a laboratory coded number. The key to the code will be
kept in a secure computer. Mutations in a-synuclein and Parkin genes
will be screened. When families are identified with three or more
affecteds linkage analysis will be performed.
Objectives
Provide demographic and genetic information of YOPD in Ireland. It will
identify the prevelance and incidence of YOPD. This is vital missing
information for health planning. Also, we will identify the prevelance
of mutations and a-synuclein and Parkin in the YOPD population. We may
identify new PD genes.
Funding
Brain Research has allocated £53,000 in part-funding to this project
which will be conducted over 3 years
A Genetic Epidemiological study of young onset Parkinson's Disease in
Ireland
Dr. Tim Lynch B.Sc., FRCPI, MRCP (Lond), Consultant Neurologist, Mater
Misericordiae and Beaumont Hospitals, Dublin - Principal Investigator
Joseph Wiley MRCPI - Research Registrar

Summary
Parkinson's Disease (PD), a progressive neurodegenerative disorder,
affects 5-6000 people in Ireland. It results in tremor, slowness,
stiffness, poor balance and significant disability. Loss of dopamine
producing nerve cells occurs within the brain stem. The best form of
treatment is replacement of dopamine, this results in dramatic temporary
improvement as shown in the movie Awakenings. Dopamine replacement is
often only effective for five years and does not arrest the disorder.
Why do dopamine producing nerve cells die off? This has been the holy
grail of PD research for the last 30 years. Initial work suggested that
environmental toxins were solely responsible for PD. Recent work
supports the concept that both genetic and environmental factors are
responsible for a cascade of events that lead to nerve cell death.
Mutations in two genes, a-synuclein and Parken, result in Parkinsonism.
The recognition that mutations in these genes can result in a loss of
dopamine-producing nerve cells in parkinsonism resulted in a reappraisal
of the causes of PD. It led to a deeper understanding of the mechanism
of brain cell death and may result in preventative and restorative
therapy. However, these mutations in these genes only account for a
small percentage of the genes involved in PD. Studies of other families
with PD is therefore of critical importance.
Mutation in both genes result in loss of the dopamine producing
brainstem cells in young onset Parkinson's disease (YOPD). Over 25% of
patients develop PD before the age of 60. YOPD (onset before 60)
commonly has a genetic cause. Therefore the YOPD population in Ireland
is an ideal group to study the genetic contribution to PD. It is
possible that studying this population in Ireland may result in the
identification of new PD genes.
A genetic epidemiological study of PD of a population has not been done.
Such a study will provide critical scientific data of population
demographics and genetics of PD. Ireland is an excellent site for such
an important study because of its stable gene pool, large family units,
relatively small size, and active PD support groups. In addition there
are few neurologists or geriatricians allowing easier identification of
YOPD patients.
Methodology
Patients with early-onset PD (before the age of 60) in Ireland will be
identified. Drs Lynch and Wiley will contact the Parkinson's disease
Association and PALS support groups to request they notify their members
of the study. Drs Lynch and Wiley will present a number of presentations
regarding PD to the Parkinson's support groups explaining the study. All
concerns raised will be addressed. Any member interested in partaking
will be contacted and assessed following notification of their general
practitioner and specialist. In addition, all neurologists and
geriatricians will be contacted requesting they complete and return an
enclosed simple demographic form listing their patients with PD. Written
informed consent from all patients involved in the study will be
obtained emphasising this is a voluntary research study.
The demographic, clinical and genetic data will be entered into a
secure, confidential database. A small sample of blood will be drawn and
DNA extracted, coded and stored in a secure -20 C freezer. The DNA will
be labeled with a laboratory coded number. The key to the code will be
kept in a secure computer. Mutations in a-synuclein and Parkin genes
will be screened. When families are identified with three or more
affecteds linkage analysis will be performed.
Objectives
Provide demographic and genetic information of YOPD in Ireland. It will
identify the prevelance and incidence of YOPD. This is vital missing
information for health planning. Also, we will identify the prevelance
of mutations and a-synuclein and Parkin in the YOPD population. We may
identify new PD genes.
Funding
Brain Research has allocated £53,000 in part-funding to this project
which will be conducted over 3 years
 

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