Cracking the Code: Understanding Familial Basilar Migraine through Genetic Testing

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Migraine is a debilitating neurological condition affecting millions of people worldwide. In some cases, migraine runs in families, and this hereditary predisposition is particularly evident in a specific type of migraine called familial basilar migraine (FBM). Genetic testing has emerged as a powerful tool to better understand, diagnose, and manage this condition. This article delves into the role of genetic testing in FBM, its benefits, and the latest research findings.

What is Familial Basilar Migraine?

Familial basilar migraine, also known as familial hemiplegic migraine, is a rare and severe form of migraine characterized by an aura that affects the brainstem or both hemispheres of the brain. Symptoms include vertigo, dizziness, double vision, loss of balance, and temporary loss of consciousness. The migraine episodes may also be accompanied by temporary paralysis on one side of the body, known as hemiplegia. FBM is inherited in an autosomal dominant manner, meaning that if one parent has the condition, there is a 50% chance that their child will inherit it as well.

Genetic Testing for Familial Basilar Migraine

Genetic testing can help identify the specific genetic mutations responsible for FBM. This information is crucial for accurate diagnosis, appropriate treatment, and better understanding of the condition. The following sections highlight the latest research findings related to genetic testing in FBM.

Identifying Novel Mutations in Familial Basilar Migraine

A recent case report of a 24-year-old woman with autosomal recessive primary familial brain calcification (AR-PFBC) presented with migraine symptoms. Whole-exome sequencing revealed a novel compound heterozygous mutation in the MYORG gene (source). This finding not only expands the list of known genetic mutations associated with FBM but also highlights the importance of genetic testing in diagnosing and understanding the condition.

Exploring the Role of the CACNA1A Gene in FBM

Another study investigated a 19-year-old man with ataxia and episodic tremors. Genetic analysis identified a missense mutation in the CACNA1A gene (source). This gene encodes a calcium channel protein, and the patient’s tremor symptoms were controlled with flunarizine, a calcium channel blocker. This finding underscores the potential of genetic testing to guide personalized treatment options for patients with FBM.

Assessing Familial Risk and Genetic Factors in Migraine

Research has shown that a positive family history of migraine is present in 58% of migraineurs, with more than half being first-degree relatives (source). This study emphasizes the importance of genetic factors in migraine and the potential benefits of genetic testing in identifying individuals at risk for developing the condition.

Investigating Rare Frameshift Indels in FBM

Patients with familial hemiplegic migraine have a higher load of rare frameshift indels in genes associated with synaptic signaling in the central nervous system and muscle tissue, contributing to vascular dysfunction (source). This research finding suggests that genetic testing for these rare indels may help differentiate FBM from other types of migraine and contribute to a more accurate diagnosis.

Benefits of Genetic Testing for Familial Basilar Migraine

Genetic testing for FBM offers several benefits:

• Accurate diagnosis: Identifying the specific genetic mutations responsible for FBM can help confirm the diagnosis, especially in cases with atypical symptoms or a complex family history.
• Personalized treatment: Genetic testing can guide treatment decisions by identifying the underlying molecular mechanisms of the condition and suggesting targeted therapies.
• Risk assessment: Genetic testing can help identify family members at risk for FBM and allow for early intervention and management of symptoms.
• Improved understanding: Research on genetic mutations in FBM can contribute to a better understanding of the condition, paving the way for the development of new therapies and preventive strategies.

In conclusion, genetic testing is a valuable tool in understanding, diagnosing, and managing familial basilar migraine. As research continues to uncover novel genetic mutations and their roles in FBM, genetic testing will become an increasingly important aspect of personalized care for individuals affected by this debilitating condition.

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)