In the capital of Australia, genomic testing led a group of researchers to the uncovering of a new neurodegenerative disorder. The condition results in children exhibiting severe epilepsy and developmental regression — a first of its kind discovery.
The new neurodegenerative condition, distinct from chronic neuroinflammation observed in other illnesses like Alzheimer’s disease or frontotemporal dementia, were detailed in a study released in the American Journal of Human Genetics.
In the study, six children were the subject of genomic testing to identify copies a defective gene associated with the condition in both parents. In three of the participants of similar ethnicity, the same gene variant was spotted. The tests were conducted at Murdoch Children’s Research Institute.
The cellular pathway impacted by the mutation in the negative regulator of reactive oxygen species (NRROS) gene was dissected by using advanced molecular techniques. Upon examination, more molecules linked to NRROS were identified, vital for the role of numerous brain cell functions.
In their findings, the participants exhibited neurodegenerative traits along with refractory epilepsy, developmental regression, and delayed myelination. The condition began as mild developmental delay, followed by the onset of seizures during the first year of life.
“All affected individuals had neurodegenerative disease with refractory epilepsy, developmental regression, and reduced white matter volume with delayed myelination,” according to the findings.
“The clinical course in affected individuals began with normal development or mild developmental delay, and the onset of seizures occurred within the first year of life, followed by developmental regression. Intracranial calcification was detected in three individuals.”
In conclusion, researchers determined the following: “our findings suggest that loss of NRROS function causes a severe childhood-onset neurodegenerative condition with features suggestive of a disordered response to inflammation.”
With these new results, the development of treatments specific for the new condition may be less complex in future research.
