February of this year we initiated a collaboration with the OMS42 centre, specialised in the treatment of neurological diseases. After several months of joint work, this alliance continues moving forward with the aim of providing their patients with cutting-edge genetic counselling and diagnostic services.
In recent years, genetics has become an essential pillar in the understanding of neurological diseases. Genetic studies allow for the detection of both causal variants and predisposition variants that can influence the development of these diseases. This information is key because it provides more precise diagnoses, facilitates the choice of personalised treatments, offers a clearer prognosis and helps families in reproductive planning.
What are neurological diseases?
Neurological diseases constitute a complex set of disorders that can appear at any age and that disrupt the functioning of the nervous system. Structural, biochemical or electrical anomalies in the brain, the spinal cord or other nerves can produce a wide variety of symptoms.
Among the most common neurological diseases are:
– Epilepsy
– Alzheimer’s disease and other dementias
– Migraine
– Multiple sclerosis
– Amyotrophic lateral sclerosis
– Parkinson’s disease
– Cerebrovascular accidents
– Ataxias
– Muscular atrophies
In neuro-paediatrics the following stand out:
– Autism
– Attention deficit and hyperactivity disorder (ADHD)
– Neurodevelopmental disorders (language, learning, behaviour)
– Childhood epilepsies
What role does genetics play in neurological diseases?
The genetic implication varies depending on the disease. It can be:
– Decisive: for example, in Huntington’s disease, Rett syndrome or familial Alzheimer’s.
– Relevant: ataxias, dystrophies…
– An additional risk factor, combined with environmental factors such as age, lifestyle, infections or trauma, as occurs in many sporadic cases of Alzheimer’s and Parkinson’s.
Monogenic neurological diseases
In this group, a mutation in a single gene is responsible for the disease. Genes are fragments of DNA that contain essential instructions for the organism’s functioning. An alteration in a gene can modify the function of the protein it codes for and trigger a pathology.
Monogenic diseases are classified according to their inheritance pattern.
To understand these patterns, it is important to remember that:
Humans have two copies of most of our roughly 20 000 genes: one inherited from the mother and the other from the father. The exception is the genes located on the sex chromosomes (X and Y). In this case:
– Women (XX) have two copies of the genes on the X chromosome.
– Men (XY) have only one copy of the genes on the X chromosome and one of the Y chromosome.
Therefore, mutations on the X chromosome tend to manifest more strongly in males.
Based on these differences, monogenic diseases are classified into: autosomal dominant, autosomal recessive and X-linked.
Autosomal dominant
A single mutated copy of the gene is enough to cause the disease. Examples:
– Huntington’s disease
– Neurofibromatosis type 1
– Myotonic dystrophy type 1
– Some cerebellar ataxias
– Majority of cases of Charcot-Marie-Tooth
– Some early-onset Alzheimer’s or Parkinson’s cases
Autosomal recessive
Both copies of the gene must be mutated. Examples:
– Friedreich’s ataxia
– Ataxia-telangiectasia
– Spinal muscular atrophy
– Some early Parkinson’s cases
X-linked
The mutation is located in a gene on the X chromosome.
– Males usually present more severe symptoms as they only have one copy of the X chromosome.
– Females may either not present symptoms or manifest them more mildly.
Examples:
– Rett syndrome
– Fragile X syndrome
Mitochondrial neurological diseases
In addition to the classic monogenic diseases, there is a significant group of neurological disorders caused by alterations in mitochondrial DNA or in nuclear genes that affect mitochondrial functioning. These cellular structures are responsible for generating most of the energy used by cells, and thus the nervous system — a tissue with high energy demand — is especially vulnerable to their dysfunction.
Unlike nuclear genes, mitochondrial DNA (mtDNA) is inherited exclusively from the mother, which determines a characteristic transmission pattern:
– Maternal transmission: a female carrier may transmit the alteration to all her children.
– Affected males do not transmit the disease to their offspring.
Mitochondrial diseases can affect multiple organs, although the most affected systems tend to be: central nervous system, peripheral nerves and muscles.
Among the most frequent neurological manifestations are:
– Epilepsy
– Ataxias
– Neuropathies
– Mitochondrial encephalopathies
– Motor problems and changes in muscle tone
– Progressive cognitive deficits
These diseases can be due to mutations in the mtDNA or in nuclear genes related to mitochondrial function. Their diagnosis may require specific genetic studies, since the proportion of mutated mtDNA can vary between tissues (heteroplasmy), which complicates detection.
Multifactorial neurological diseases
In these diseases several genes intervene together with environmental factors, forming a complex network of influences. There is no single cause and the inheritance pattern is difficult to predict.
Examples:
– The majority of late-onset Alzheimer’s cases
– The majority of late-onset Parkinson’s cases
– Some cases of autism
Current research focuses on identifying the factors involved and developing strategies for prevention, early diagnosis and personalised treatments.
Genetic counselling and genetic diagnosis: key tools in neurology
Genetic counselling is essential to identify, diagnose and understand many neurological disorders. It helps patients and their families to:
– Understand the genetic origin of the disease
– Assess the recurrence risk
– Make informed decisions about clinical management
– Plan future pregnancies with better information
Furthermore, due to rapid advances in genetics, it is often necessary to repeat previously negative genetic studies in order to arrive at a definitive diagnosis.
About the companies
OMS42
OMS42 is a multidisciplinary centre specialised in Neurology, Psychiatry, Psychology and Neuropsychology.
Founded in 1981 by a team led by Dr García Trujillo, it stands out for its integral approach which enables diagnosing, guiding and proposing coordinated solutions for various nervous system pathologies.
Genosalut
Genosalut is the first genetic diagnostic laboratory in the Balearic Islands. Founded in 2012, it has the vocation of translating advances in genetics and genomics into clinical practice to improve people’s quality of life.
Its multidisciplinary team offers innovative genetic tests, genetic counselling and tools for prevention, diagnosis and monitoring of diseases.
A collaboration in the service of precision medicine
The alliance between Genosalut and OMS42 merges clinical experience in neurology with genetic expertise, reinforcing the commitment of both entities to more personalised, precise care centred on each patient’s needs.
