- Paralysis agitans
- Parkinson's disease
- Primary parkinsonism
- Shaking palsy
Your QuestionMultiple members of my family have been diagnosed with Parkinson disease, however there appears to be only one case of parent to child transmission. How does Parkinson disease run in families?
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Among familial cases of Parkinson disease, how the condition runs in the family differs depending on which gene is altered. When a parent and child are affected, autosomal dominant inheritance must be ruled out. Autosomal dominant disorders tend to occur in every generation of an affected family. However, in Parkinson disease there are a number of genetic phenomenon that can influence how the gene alterations impact a given family.
As an example, mutations in the LRRK2 gene can cause autosomal dominant Parkinson disease. However, the age of onset of Parkinson's in people with LRRK2 gene alterations is highly variable (from 35-years to 78-years). Symptom and symptom severity can also vary, even between family members. Also, some people with LRRK2 gene alterations never develop Parkinson disease at all.
Alterations in LRRK2 is only one example of a cause of familial Parkinson disease. In addition to LRRK2, SNCA gene alterations can cause autosomal dominant Parkinson disease. Alterations in the genes PARK7 or PINK1 can cause an autosomal recessive form of Parkinson disease. Alterations in PARK2 can cause autosomal recessive or dominant disease. Furthermore, the inheritance pattern is unclear when an increased risk of Parkinson disease or parkinsonism is associated with alterations in the GBA, SNCAIP, and UCHL1 genes.
Clinical genetic testing is available for some, but not all gene alterations known to be associated with Parkinson disease. Also, there are likely additional gene alterations that can cause Parkinson disease that have not yet been identified. To learn more about how Parkinson disease may be running in your family and to learn more about your genetic testing options, we recommend that you speak with a genetic professional.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Pankratz ND, Wojcieszek J, Foroud T. Parkinson Disease Overview. GeneReviews. July 9, 2009; http://www.ncbi.nlm.nih.gov/books/NBK1223/. Accessed 10/3/2011.