By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
- Dementia: A chronic or persistent disorder of the mental processes caused by brain disease or injury or marked by memory disorder, personality change or impaired reasoning.
- Parkinson Disease: Progressive disorder affecting several areas of the brain specially substantia nigra which controls balance and movement.
- 1-2% of the general population
- 2-4% in 60 year olds or greater
- If 1st degree relative with Parkinson Disease: Risk is 4-9% higher than the population risk.
- 15-25% of Parkinson Disease is Familial.
Juvenile Onset Parkinson’s Disease: Onset before 20 years of age
Early Onset Parkinson’s Disease: Before 50 years of age
Regular Onset Parkinson’s Disease: Usually after 50 years of age
70% of patients with Parkinson Disease develop dementia.
Mortality risk higher if dementia present.
Genes Involved in Autosomal Recessive Type Parkinson Disease:
- PARK2 (PARKIN) (chromosome 6q25)
- PARK7 (DJ1) (chromosome 1p36)
- PINK1 (PARK6) (chromosome 1p36)
- PARK9 (ATP13A2) (chromosome 1p36)
Other Genes Usually Involved in Autosomal Dominant Pattern of Inheritance:
- PARK1 (chromosome 4q21)
- PARK10 (chromosome 1p32)
- PARK11 (chromosome 2q37)
- PARK7 (DJ1) (chromosome 1p36 – ? early onset)
- SNCA (chromosome 4q21)
Genes That Modify the Risk of Developing Parkinson Disease:
- GBA (chromosome 1q21)
- UCHL1 (chromosome 4p14)