• 14 February 2024
  • Dr Stephen Winters

Neurological disorders encompass a wide range of conditions that affect the brain, spinal cord, nerves, muscles, eyes, ears and blood vessels. Genetic testing has emerged as a valuable tool in the field of neurology, and the subspecialty of Neurogenetics is growing rapidly.

There have been many major advances in the recognition of many neurological conditions as having a genetic basis, and there has been a large expansion in the availability of genetic testing. Identifying a genetic basis for a neurological disorder aids in diagnosis, treatment, management and prevention of complications.

At CURA Medical Specialists, a team of experienced neurologists in Sydney, Australia, we offer advanced genetic testing and personalised care for individuals with neurological disorders.

In this blog, we delve deeper into genetic testing for neurological disorders, when and why it can be and how to test for neurological disorders.

Understanding genetic factors in neurological disorders

Genetic factors contribute to the development of many neurological disorders. For some types of neurological disorders, a specific genetic variant or change can be identified in affected individuals as the single underlying cause of their condition. For other types of conditions, there is no single large genetic change but there might be a number of small genetic factors that are contributing to the overall risk of developing a condition, which is called polygenic risk.

Variants or mutations in specific genes can disrupt normal cellular processes, leading to neurodegeneration, impaired brain function, or abnormal nerve signalling.

By identifying these genetic factors through testing, neurologists can gain a deeper understanding of the underlying causes of neurological disorders and tailor treatment plans accordingly.

genetic testing for neurological disorders

Genetic testing can be used to diagnose neurological conditions and aid in treatment

Genetic testing for neurological disorders offers several benefits. It provides a definitive diagnosis by identifying specific genetic abnormalities, enabling precise disease classification. This prevents long delays to achieving a diagnosis, and allows doctors to make appropriate treatment recommendations and preventative interventions.

This information helps in determining appropriate treatment strategies, predicting disease progression, and assessing the chance that other people within a family might also be at risk of developing the condition.

Common neurological disorders with an underlying genetic cause

For many common neurological conditions, a small percentage of cases will be caused by an underlying gene change that can be detected with appropriate genetic testing. The types of conditions where genetic testing might be considered include:

  • Hereditary neuropathies, also known as Charcot-Marie-Tooth (CMT) disease
  • Muscle conditions or undiagnosed myopathies
  • Recurrent episodes of muscle breakdown (rhabdomyolysis) including individuals with raised muscle enzyme levels (creatine kinase) without an identified cause
  • Optic atrophy
  • Parkinson’s disease at a young age
  • Dystonia, chorea and other types of movement disorder
  • Ataxias including spinocerebellar ataxias (SCA)
  • Hereditary spastic paraplegia (HSP)
  • Amyotrophic lateral sclerosis (ALS) or Motor Neurone Disease
  • Dementia before the age of 50
  • Certain forms of epilepsy
  • Multiple cerebral cavernomatous malformations
  • Blood vessel conditions including types of brain aneurysms, arteriovenous malformations or arterial dissections

Genetic testing plays a crucial role in diagnosing these conditions and guiding treatment decisions. Individuals who are diagnosed with these conditions should be given appropriate genetic counselling and consider undertaking genetic testing.

How are neurogenetic disorders diagnosed

There are various methods and techniques used by laboratories in genetic testing for neurological disorders. These techniques analyse the DNA from an individual who has been diagnosed with a neurological condition and look for changes in the genetic sequence.

Most laboratories can perform the testing with a sample of blood, or a cheek swab as the first-line testing.

The potential outcomes of genetic testing include:

  1. Identifying a genetic change that causes the neurological condition
  2. Not identifying any genetic variants – which could be due to limitations of the testing (“false negative”), or that the condition does not have a genetic basis (“true negative”)
  3. Identifying a variant of uncertain significance (VUS) which may or may not be the cause
  4. An incidental finding of a change in another gene that does not explain the condition, but needs to be addressed on its own merits
genetic testing for neurological disorders

DNA testing offers definitive diagnosis by identifying specific genetic abnormalities, enabling precise disease classification.

Other considerations and limitations of genetic testing

While genetic testing offers significant benefits, it also raises other considerations.

Test results may have implications for individuals and their families, including emotional, psychological, and social impacts. Individuals should be counselled on these factors, and the potential outcomes of testing before it is performed.

Genetic testing has limitations, as not all neurological disorders have identified genetic markers, and interpreting test results requires expertise and ongoing research.

The future of genetic testing in neurological disorders

Genetic testing is continually evolving, driven by advancements in technology and research. It holds immense potential in uncovering new genetic variants associated with neurological disorders, improving diagnostic accuracy, and guiding the development of targeted therapies.

As our understanding of genetics deepens, genetic testing will play an increasingly pivotal role in personalized medicine for neurological conditions.


Genetic testing is a valuable tool in the diagnosis and management of neurological disorders. It helps unravel the genetic components of these conditions, providing insights into disease mechanisms, prognosis, and treatment options.

CURA Medical Specialist for your genetic testing

Choose CURA Medical Specialists for your genetic testing needs. Our experienced neurologists in Sydney, Australia, offer personalized care and advanced genetic testing techniques for neurological disorders.

With state-of-the-art facilities and a commitment to staying up-to-date, we provide accurate results and tailored treatment plans.

Trust CURA for compassionate care and comprehensive management of your genetic testing. Schedule a consultation today to take the next step in understanding and addressing your neurological condition.

Contact our team for a consultation with one of our qualified neurologists


For more information please read our most frequently asked questions:

Can genetic tests detect neurological problems?

Yes, genetic tests can detect certain neurological problems by identifying specific gene mutations or variations associated with those disorders.

What neurological disorders are genetic?

Numerous neurological disorders have a genetic component, including young-onset Alzheimer’s disease and Parkinson’s disease, Huntington’s disease, muscular dystrophy, hereditary neuropathies, and many others.

How much does it cost to have genetic testing for neurological disorders?

For certain neurogenetic conditions, the testing is covered by Medicare with no out-of-pocket cost to Medicare-eligible patients. However, for other conditions there may be an out-of-pocket cost. Your doctor will explain this to you before discussing any testing.

How long does it take to get a result?

The testing and analysis is very complex, and can take anywhere from several weeks to several months. Your doctor will discuss this with you at the time of any testing.

Dr Stephen Winters
About The Author

Dr Stephen Winters

Dr Hugh Stephen Winters is a neurologist with four years of exhaustive training in interventional neuroradiology, which includes a year of clinical and procedural fellowship in Clinical and Procedural Fellowship in Interventional Neuroradiology at the Erlanger Medical Center in Tennessee.

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