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Biallelic pathogenic variants in\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    cause a severe congenital hypomyelinating neuropathy, characterized by hypotonia, arthrogryposis, respiratory failure, and early lethality. We describe two brothers, seven and 13\u2009years old, with spastic tetraparesis and limb dystonia, in whom we identified compound heterozygous variants in\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    . Comprehensive neurophysiological evaluation revealed an unusual, asymmetric pattern of hypomyelination that spared lower limb nerves. Moreover, brain neuroimaging showed only mild terminal zone hypomyelination. This report extends the phenotypic spectrum of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    encephalopathy to primarily upper motor neuron disease with the predominant spastic features. In addition, it provides further evidence for the association of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    with dystonia. Importantly,\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    mutations should be suspected in individuals with unexplained hypotonia and pyramidal syndrome even in the absence of apparent hypomyelination on brain imaging and normal conduction velocities in routinely examined nerves.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64154","type":"journal-article","created":{"date-parts":[[2025,6,16]],"date-time":"2025-06-16T05:21:48Z","timestamp":1750051308000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Attenuated Phenotype of\n                    <i>CNTNAP1<\/i>\n                    \u2010Related Neuropathy Mimics Spastic\u2013Dystonic Cerebral Palsy"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6607-5983","authenticated-orcid":false,"given":"Magdalena","family":"Krygier","sequence":"first","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8112-9153","authenticated-orcid":false,"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine and Health Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen  Munich Germany"},{"name":"Institute for Advanced Study, Technical University of Munich  Garching Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9374-3430","authenticated-orcid":false,"given":"Magdalena","family":"Chyli\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Adult Neurology Medical University of Gdansk  Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3680-0953","authenticated-orcid":false,"given":"Dominik","family":"\u015awi\u0119to\u0144","sequence":"additional","affiliation":[{"name":"2nd Department of Radiology Medical University of Gdansk  Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4562-1882","authenticated-orcid":false,"given":"Marta","family":"Zawadzka","sequence":"additional","affiliation":[{"name":"Department of Developmental Neurology Medical University of Gdansk  Gdansk Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2847-1782","authenticated-orcid":false,"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University of Warsaw  Warsaw 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