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  1. Neurological Disorders

Genetic Testing for Neurological Indications

Clear diagnosis with genetic testing is the basis of effective treatment and management for many disorders of the brain and nervous system.

Symptoms related to a genetic cause

The link between neurological disorder phenotypes and their genetic mutations has increasingly understood in the past decade. For severe disorders such as epilepsy, brain malformations, or mental retardation, in 60% of the cases a genetic cause can be identified1,2,3,4. While the age of onset can vary greatly, these diseases are often chronic, debilitating and progressive.

The correct diagnoses with genetic testing can benefit many patients showing symptoms of diseases of the brain and nervous system with a genetic basis such as spastic paraplegia, dystonia, Alzheimer's disease, stroke, migraine, multiple sclerosis, concussion, Parkinson's disease and epilepsy. In addition, many of these disorders may not manifest themselves until adulthood; genetic testing allows diagnosis of any disease before symptoms appear, giving a patient and their family valuable information at the earliest possible stage.

Referral reasons

  • Individuals presenting with the most common symptoms of a neurological disease

  • Individuals with a positive family history of neurological disease

  • Individuals without a positive family history but with symptoms resembling the specific disease indication

  • Individuals with a negative, but suspected, family history, in order to perform genetic counseling (prenatal analyses are recommended in families of affected individuals)

Diagnostic strategy

Confirmation of a clinical diagnosis through genetic testing allows for genetic counseling and may lead to immediate medical management. For each presented case and phenotype, a full medical report will be produced including a tailored diagnostic strategy, recommendations and a differential diagnosis, if applicable.

Clinical symptoms are not always the product of the same gene or genetic variation; any diagnosis is determined as a combination of the in-depth clinical information provided and the identified genetic cause.

What do we know about neurological diseases?

Three of the most prominent neurological disorders diagnosed with the help of genetic testing are dystonia, spastic paraplegia and Parkinson’s disease, but there are many more.

While the age of onset can vary greatly, these diseases are often chronic, debilitating and progressive. Therefore, an early diagnosis coupled with a comprehensive clinical interpretation is pivotal for choosing a suitable treatment plan.

Epilepsy is a common neurological disorder characterized by a continuing predisposition to generate epileptic seizures. Seizures are episodes of abnormal, excessive neuronal activity in the brain. Approximately 50 million people currently live with epilepsy worldwide. The estimated proportion of the general population with active epilepsy (i.e. continuing seizures or with the need for treatment) at a given time is between 4 and 10 per 1000 people5. Epilepsy can occur on its own or as part of a syndrome. Some forms of epilepsy are caused by a single gene mutation and others are primarily due to the interaction of multiple genes and sometimes environment. The total number and different types of genes known to be involved in epilepsy is still growing, but many are now well characterised6.

Mental retardation (MR), better known as intellectual disability (ID) - is a lifelong disability that presents mostly in infancy or early childhood. It is characterized by below-average intelligence or mental ability. MR/ID can be classified as mild (IQ 50 to 70), moderate (IQ 35 to 49), severe (IQ 20 to 34), or profound (IQ less than 20)7.

MR/ID occurs in ~0.5% of newborns and is usually linked to a genetic cause. For genetic testing, genome-wide detection for all types of MR/ID genetic variations is highly recommended due to the broad genetic heterogeneity that exists among MR/ID7,8.



Single Gene Analysis


What can CENTOGENE do for you and your patients

CENTOGENE has identified genetic variants associated with neurological diseases in more than 1,000 different genes.

CentoMD® is the world’s largest mutation database for rare diseases, 57% of which is made up of unpublished variants. We carefully curate and documented all variants that have clinical relevance for related symptoms, allowing the most comprehensive diagnosis of a neurological disease.

  1. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004; 113: e472-86.
  2. Parrini E, Conti V, Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Molecular Syndromology. 2016 Aug 27;7(4):220-33.
  3. Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues in clinical neuroscience. 2008 Mar;10(1):47.
  4. Costeff H. Estimated frequency of genetic and nongenetic causes of congenital idiopathic cerebral palsy in west Sweden. Annals of human genetics. 2004 Sep 1;68(5):515-20.
  5. WHO Epilepsy factsheet 2016
  6. Steinlein, Ortrud K. "Genetic mechanisms that underlie epilepsy." Nature Reviews Neuroscience 5.5 (2004): 400-408.
  7. Vissers et al. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. (2016).
  8. Homberg et al. Genetic and environmental modulation of neurodevelopmental disorders: Translational insights from labs to beds. Brain Res Bull. (2016).

Scientific Articles on Neurology

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