{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T04:03:42Z","timestamp":1792469022504,"version":"4.5.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,11,28]],"date-time":"2023-11-28T00:00:00Z","timestamp":1701129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variants in dehydrodolichol diphosphate synthetase (<jats:italic>DHDDS<\/jats:italic>) and nuclear undecaprenyl pyrophosphate synthase 1 (<jats:italic>NUS1<\/jats:italic>) cause a neurodevelopmental disorder, classically with prominent epilepsy. Recent reports suggest a complex movement disorder and an overlapping phenotype has been postulated due to their combined role in dolichol synthesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>We describe three patients with heterozygous variants in <jats:italic>DHDDS<\/jats:italic> and five with variants affecting <jats:italic>NUS1<\/jats:italic>. They bear a remarkably similar phenotype of a movement disorder dominated by multifocal myoclonus. Diagnostic clues include myoclonus exacerbated by action and facial involvement, and slowly progressive or stable, gait ataxia with disproportionately impaired tandem gait. Myoclonus is confirmed with neurophysiology, including EMG of facial muscles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Literature Review<\/jats:title><jats:p>Ninety\u2010eight reports of heterozygous variants in <jats:italic>DHDDS, NUS1<\/jats:italic> and chromosome 6q22.1 structural alterations spanning <jats:italic>NUS1<\/jats:italic>, confirm the convergent phenotype of hypotonia at birth, developmental delay, multifocal myoclonus, ataxia, dystonia and later parkinsonism with or without generalized epilepsy. Other features include periodic exacerbations, stereotypies, anxiety, and dysmorphisms. Although their gene products contribute to dolichol biosynthesis, a key step in N\u2010glycosylation, transferrin isoform profiles are typically normal. Imaging is normal or non\u2010specific.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Recognition of their shared phenotype may expedite diagnosis through chromosomal microarray and by including <jats:italic>DHDDS\/NUS1<\/jats:italic> in movement disorder gene panels.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13920","type":"journal-article","created":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T03:15:48Z","timestamp":1699845348000},"page":"76-85","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["<scp><i>DHDDS<\/i><\/scp> and <scp><i>NUS1<\/i><\/scp>: A Converging Pathway and Common Phenotype"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3077-2960","authenticated-orcid":false,"given":"Laura J.","family":"Williams","sequence":"first","affiliation":[{"name":"Movement Disorder Unit, Department of Neurology Westmead Hospital  Westmead New 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