Genetic studies in neurology

They can help confirm a diagnosis and determine the risk of developing a genetic disease.

Estudios genéticos en neurología

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What is neurology genetic testing?

Genetic studies in neurology are a set of tests that analyse a person's DNA to identify mutations or genetic changes that may be associated with a neurological disease.


What is the cause?

Neurological diseases can have a genetic cause, either inherited from parents or de novo (appearing for the first time in the person). Genetic mutations can affect genes that are important for the development and function of the nervous system.


What is the incidence?

The incidence of neurological diseases of genetic origin varies widely. Some are very rare, while others are more common. For example, Huntington's disease is a rare neurodegenerative disease with an incidence of approximately 5-10 per 100,000 people.


How is it diagnosed?

Genetic studies can be carried out using different techniques, such as:

  • Karyotype analysis: allows chromosomal abnormalities to be identified.
  • Fluorescence in situ hybridisation (FISH): detects changes in the structure of chromosomes.
  • DNA sequencing: to identify mutations in specific genes.
  • Gene panels: analyse a group of genes related to a specific disease or condition.
  • Whole exome: sequences the entire coding regions of the genome.


How this study helps the medical specialist?

Genetic studies can help the medical specialist to confirm a diagnosis and determine the risk of developing a genetic disease. They can also help to select the most appropriate treatment and predict the evolution of the disease.


In which cases is it indicated?

Genetic studies are indicated in the following cases:

  • Suspicion of neurological disorder of genetic origin. Such as Fragile X syndrome or Down's syndrome.
  • Family history of a neurological disease.
  • Developmental delay or intellectual disability.
  • Epilepsy
  • Movement disorders
  • Dementia
  • Neurodegenerative diseases.


Author: Jose A. Ortiz