AUTHOR=Gozes Illana 

TITLE=The ADNP Syndrome and CP201 (NAP) Potential and Hope

JOURNAL=Frontiers in Neurology

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.608444

DOI=10.3389/fneur.2020.608444

ISSN=1664-2295

ABSTRACT=<p>Activity-dependent neuroprotective protein (<italic>ADNP</italic>) syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a rare condition, which is diagnosed in children exhibiting signs of autism. Specifically, the disease is suspected when a child is suffering from developmental delay and/or intellectual disability. The syndrome occurs when one of the two copies of the <italic>ADNP</italic> gene carries a pathogenic sequence variant, mostly a <italic>de novo</italic> mutation resulting in loss of normal functions. Original data showed that <italic>Adnp</italic><sup>+/−</sup> mice suffer from learning and memory deficiencies, muscle weakness, and communication problems. Further studies showed that the ADNP microtubule-interacting fragment NAP (called here CP201) resolves, in part, <italic>Adnp</italic> deficiencies and protects against <italic>ADNP</italic> pathogenic sequence variant abnormalities. With a clean toxicology and positive human adult experience, CP201 is planned for future clinical trials in the <italic>ADNP</italic> syndrome.</p>