Article
The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.
American journal of medical genetics. Part A - 1 Nov 2025
Krygier Magdalena, Zech Michael, Chylińska Magdalena, Świętoń Dominik, Zawadzka Marta, Pollak Agnieszka, Kostrzewa Grażyna, Mazurkiewicz-Bełdzińska Maria, Płoski Rafał
Abstract excerpt
CNTNAP1 encodes a contactin-associated protein 1, which is essential for formation and organization of myelinated nerve fibers. Biallelic pathogenic variants in CNTNAP1 cause a severe congenital hypomyelinating neuropathy, characterized by hypotonia, arthrogryposis, respiratory failure, and early lethality. We describe two brothers, seven and 13 years old, with spastic tetraparesis and limb dystonia, in whom we...
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