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Article

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Movement disorders clinical practice - 1 Jan 2024

Williams Laura J, Waller Sophie, Qiu Jessica, Innes Emily, Elserafy Noha, Procopis Peter, Sampaio Hugo, Mahant Neil, Tchan Michel C, Mohammad Shekeeb S, Morales-Briceño Hugo, Fung Victor S C

Abstract excerpt

BACKGROUND: Variants in dehydrodolichol diphosphate synthetase (DHDDS) and nuclear undecaprenyl pyrophosphate synthase 1 (NUS1) 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. CASES: We describe three patients with heterozygous variants in...

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Identifiers

PMID: 38291835
DOI: 10.1002/mdc3.13920
PMCID: PMC10828623

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