Expert Reviewed By: Dr. Brandon Colby MD
Parkinsonism-plus, also known as atypical parkinsonism or Parkinson's-plus syndrome, is a group of neurological conditions that share similarities with Parkinson's disease but are more complex and have additional features. These conditions typically progress more rapidly and have a poorer prognosis than classic Parkinson's disease. Genetic testing can play a crucial role in understanding, diagnosing, and managing Parkinsonism-plus syndromes.
Understanding Parkinsonism-plus
Parkinsonism-plus syndromes are a group of rare disorders that can mimic Parkinson's disease, but they often have additional features that set them apart. These additional features can include early falls, dementia, rapid eye movement (REM) sleep behavior disorder, and autonomic dysfunction. The most common Parkinsonism-plus syndromes include:
- Multiple system atrophy (MSA)
- Progressive supranuclear palsy (PSP)
- Corticobasal degeneration (CBD)
- Dementia with Lewy bodies (DLB)
These conditions are caused by the degeneration of nerve cells in specific areas of the brain, which leads to the characteristic motor and non-motor symptoms. The exact cause of Parkinsonism-plus syndromes is not fully understood, but genetic factors are believed to play a role in some cases.
Diagnosing Parkinsonism-plus
Diagnosing Parkinsonism-plus syndromes can be challenging, as the symptoms can be similar to Parkinson's disease and other neurological conditions. A thorough clinical evaluation by a neurologist with expertise in movement disorders is essential for an accurate diagnosis. This evaluation may include a detailed medical history, physical and neurological examinations, and various tests to rule out other conditions.
Imaging studies, such as magnetic resonance imaging (MRI) and positron emission tomography (PET) scans, can also be helpful in diagnosing Parkinsonism-plus syndromes. These imaging tests can reveal characteristic patterns of brain degeneration that can help differentiate between Parkinsonism-plus syndromes and other neurological conditions.
Genetic Testing for Parkinsonism-plus
Identifying Genetic Causes
Genetic testing can be a valuable tool in understanding and diagnosing Parkinsonism-plus syndromes. Although the majority of cases are sporadic, meaning they occur without a known family history, some cases are caused by mutations in specific genes. Identifying these genetic mutations can help confirm a diagnosis and provide information on the underlying cause of the condition.
Guiding Treatment and Management
Genetic testing can also be helpful in guiding treatment and management strategies for Parkinsonism-plus syndromes. Knowing the specific genetic cause of the condition can help healthcare providers tailor treatment plans to address the unique needs of the individual. For example, certain medications may be more effective for individuals with specific genetic mutations.
Family Planning and Genetic Counseling
For individuals with a known genetic cause of Parkinsonism-plus, genetic counseling can provide valuable information on the risk of passing the condition on to future generations. This information can be important for family planning and can help individuals make informed decisions about their reproductive options.
Conclusion
Parkinsonism-plus syndromes are a group of complex neurological conditions that can be challenging to diagnose and manage. Genetic testing can play a crucial role in understanding the underlying cause of these conditions, confirming a diagnosis, and guiding treatment and management strategies. Individuals with Parkinsonism-plus syndromes or a family history of these conditions should consider discussing genetic testing options with their healthcare provider.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)