CNTNAP1

This is a genetic disorder (a protein linked to contactin) that results in poorly wrapped cranial nerves (hypomyelinating neuropathy), leading to weak movement. CNTNAP1 is located on the 17th chromosome. There are 14 children with this condition worldwide. According to the latest studies, over 40 cases of this disorder have been recorded. Charlottka has a mutation in this gene that is not described anywhere in the literature or database. Currently, scientists from SA are collaborating with NKIM NÚDCH, and Charlottka's case will be documented in literature, publications, and scientific journals. However, based on genetic researchers here in Slovakia, we know that this is a milder form of the disorder, which has been confirmed over time. There is also a little girl living in California who has a milder form of this condition. This genetic disorder is currently untreatable. However, for the past six years, research has been ongoing in San Antonio under the direction of scientists from UT Health Science Center SA, who are trying to develop a genetic treatment (medicine) using the AAV method for children with this disorder. We believe that they will soon succeed in gene therapy on mice, and we will be able to progress to treating children. For now, everything is developing positively.

CNTNAP1 from a medical perspective

It was first recorded on the list of diseases in 2014. It is a relatively "young", not very well-researched gene. CNTNAP1 is closely related to CNTNAP2 and encodes the CASPR1 gene, which is involved in paranodal junctions. It also plays a role in the regulation of neural progenitor cells and the development of the cerebral cortex. Therefore, among some patients, MRI scans of the brain have shown evidence of immature (underdeveloped) brain and signs of brain atrophy or abnormal white matter signals. Electroencephalograms (EEG) of the brain may exhibit a discontinuous immature pattern. Electromyography (EMG) shows signs of neurogenic lesions. CNTNAP1 is found on a protein that binds to contactin (similar to a subunit for activating nerve impulses). It results in hypomyelinating neuropathy, which affects the myelination of the CNS and, in some areas, the peripheral nervous system as well. This leads to weak movement and errors in the exchange of information between the brain and the organs.