Expert Reviewed By: Dr. Brandon Colby MD
Essential tremor (ET) is a common neurological disorder characterized by involuntary shaking or trembling of the hands, head, or other body parts. While the exact cause of ET remains unknown, recent studies suggest that genetic factors may play a significant role in the development of the disease. This article will discuss the current understanding of hereditary essential tremor, its diagnosis, and the potential benefits of genetic testing for patients and their families.
Understanding Hereditary Essential Tremor
Research has shown that essential tremor has a strong hereditary component, with up to 60% of ET patients having a family history of the disease (1). Despite this, many patients are not well informed about the genetic basis of ET, highlighting the need for better education and awareness about the disease and its hereditary nature (1).
Although the exact genetic cause of hereditary essential tremor is still unclear, studies have ruled out associations with some common degenerative hereditary ataxia loci, such as pathogenic repeat expansions in SCA loci (2). Further research is needed to identify the specific genes and mutations responsible for ET.
Diagnosing Hereditary Essential Tremor
Diagnosing hereditary essential tremor can be challenging, as the clinical presentation can vary greatly among patients and may overlap with other neurological disorders. For example, hereditary spastic paraplegia, caused by a novel homozygous variant in RNF170, can present with similar symptoms (3). Additionally, the tremor-dominant subtype of neuronal intranuclear inclusion disease, caused by the GGC repeat expansion in the NOTCH2NLC gene, can mimic essential tremor (4).
Diagnosis of hereditary essential tremor typically involves a thorough clinical evaluation, including a detailed family history, neurological examination, and assessment of the patient's response to medications. In some cases, additional tests, such as neuroimaging or genetic testing, may be recommended to rule out other conditions or confirm the diagnosis.
Genetic Testing for Hereditary Essential Tremor
While genetic testing for hereditary essential tremor is not yet widely available, ongoing research and advancements in genetic technology are paving the way for more personalized and targeted diagnostic and treatment approaches. There are several potential uses and benefits of genetic testing for patients with hereditary essential tremor.
Confirming Diagnosis
Genetic testing can help confirm the diagnosis of hereditary essential tremor in cases where the clinical presentation is ambiguous or overlaps with other neurological disorders. By identifying specific genetic mutations or markers associated with ET, patients and their healthcare providers can be more confident in their diagnosis and treatment plan.
Identifying At-Risk Family Members
For individuals with a family history of essential tremor, genetic testing can provide valuable information about their risk of developing the disease. Identifying at-risk family members can allow for early intervention, monitoring, and treatment, potentially improving outcomes and quality of life for those affected by ET.
Informing Treatment and Management
As our understanding of the genetic basis of hereditary essential tremor continues to grow, so too does the potential for targeted treatments and therapies. Genetic testing may one day help guide the development of personalized treatment plans for patients with ET, tailored to their specific genetic profile and disease presentation.
Advancing Research and Understanding
Genetic testing and research contribute to our overall understanding of hereditary essential tremor and its underlying genetic mechanisms. By identifying new genes, mutations, and disease pathways, researchers can continue to develop more effective treatments and therapies, ultimately improving the lives of those living with ET.
In conclusion, while there is still much to learn about the genetic basis of hereditary essential tremor, ongoing research and advancements in genetic testing offer hope for improved diagnosis, treatment, and management of this complex neurological disorder. As our understanding of ET genetics continues to grow, patients and their families can look forward to a future of more personalized and targeted care.
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)