Genetic consultation in the field of Neurogenetics

Neurogenetic disorders are conditions caused by changes in genes and chromosomes. These conditions affect the brain, spinal cord, nerves and muscles. Neurogenetic disorders can create health problems at birth or later in childhood.

There are many different types of neurogenetic disorders. While these conditions are rooted in genetic changes, not all of them are inherited. Types of neurogenetic disorders include:

  • Autism spectrum disorder
  • Brain malformations
  • Developmental delay
  • Intellectual and cognitive disability
  • Parkinson’s Disease
  • Epilepsy and seizures (genetic forms)
  • Metabolic disorders
  • Neurocutaneous disorders (for example, neurofibromatosis)
  • Neuromuscular disorders
  • Pediatric stroke
  • Neurodegenerative disorders

Reasons for genetic consultation in the field of Neurogenetics

A genetic cause may be considered in the development of different neurological disorders (e.g., Hereditary Motor and Sensory Neuropathies (HMSN), Hereditary Spastic Paraplegia (HSP), Muscular Dystrophies (such as Duchenne, Becker), Hereditary Muscular Atrophies (such as SMA), Fragile X-Associated Tremor-/Ataxia Syndrome (FXTAS), Fragile X-Associated Neuropsychiatric Disorders (FXAND), Spinocerebellar Ataxias, Chorea Huntington, epilepsy syndromes)

We offer genetic consultation, testing, and diagnostics in all cases of a suspected hereditary neurological or muscular disorder as well as epilepsy syndromes.

Can we help you? Make an enquiry today.

What is Neurogenetics?

Not every neurological diagnosis is straightforward. For example, some patients might exhibit the characteristic tremors and motor control issues of Parkinson’s disease, but they also might have other symptoms, such as memory problems, which are not common in Parkinson’s patients.

In these difficult-to-diagnose cases, patients are often referred to a neurogeneticist, where they receive a more precise diagnosis of the genetic factors underlying their neurological condition.

Neurogenetics deals with adult and paediatric patients. Among adults, most of the patients have some kind of neurodegenerative disease (progressive damage to cells in the brain and/or nervous system), neuromuscular disorders or genetic form of epilepsy (repeated seizures). Among children, the most commonly treated patients have some kind of mental development delay, autism spectrum disorder, neuromuscular disorders or seizures.

Neurogenetics is a field that uses recent advances in genome sequencing in order to better understand the cause of brain and nerve disorders. This can help patients determine the extent to which their genetic material plays a role in their condition, and help health care professionals to advance the concept of personalised clinical care by creating highly tailored treatment programs for each patient with a comprehensive understanding of a patient’s genetic profile and medical history.

Can we help you? Make an enquiry for Genetic consultation in the field of Neurogenetics today.

Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurological condition that affects a person’s behaviour, ability to communicate and social interaction skills. People with autism spectrum disorder understand and interact with the world differently than their peers.

Autism is primarily a genetic condition: Most of the risk for autism comes from genes. Mutations in more than 100 genes are known to lead to the condition. There are four types of tests that can detect these mutations, as well as structural variations that may lead to autism. As researchers learn more about the genetics of autism, the tests have become more informative: More of the mutations they find have ties to autism and to known health consequences.

A genetic test cannot diagnose or detect autism. That’s because myriad genes along with environmental factors may underlie the condition. Roughly 100 genes have clear ties to autism, but no single gene leads to autism every time it is mutated.

Genetic tests are not intended to diagnose autism — no known mutation leads to the condition every time — but, their results can substantially alter the course of treatments or prevention. Some mutations reveal that the carrier is prone to medical conditions such as seizures, obesity or kidney problems, for example. The information can also connect people who share a mutation; some of these individuals and their families have even fostered research by discovering shared traits. And knowing the specific risks associated with a mutation helps families make decisions about having more children.


Genetics & Parkinson’s

We do not know exactly what causes Parkinson’s disease (PD), but scientists believe that a combination of genetic and environmental factors are the cause. The extent to which each factor is involved varies from person to person. Researchers do not know why some people develop Parkinson’s and others do not.

Genetics cause about 10% to 15% of all Parkinson’s. In some families, changes (or mutations) in certain genes are inherited or passed down from generation to generation. A handful of ethnic groups, like the Ashkenazi Jews and North African Arab Berbers, more commonly carry genes linked to PD and researchers are still trying to understand why.

A genetic test will help you identify whether you carry a genetic mutation related to Parkinson’s. Understanding genetic differences across people with Parkinson’s can help identify clues about how and why a person’s experience with the disease differs from others. Genetic tests are not a substitute for a Parkinson’s diagnosis.

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