{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:41:04Z","timestamp":1781613664253,"version":"3.54.5"},"reference-count":57,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T00:00:00Z","timestamp":1660003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and purpose<\/jats:title><jats:p><jats:italic>HIBCH<\/jats:italic> and <jats:italic>ECHS1<\/jats:italic> genes encode two enzymes implicated in the critical steps of valine catabolism, 3\u2010hydroxyisobutyryl\u2010coenzyme A (CoA) hydrolase (HIBCH) and short\u2010chainenoyl\u2010CoA hydratase (ECHS1), respectively. <jats:italic>HIBCH<\/jats:italic> deficiency (HIBCHD) and <jats:italic>ECHS1<\/jats:italic> deficiency (ECHS1D) generate rare metabolic dysfunctions, often revealed by neurological symptoms. The aim of this study was to describe movement disorders spectrum in patients with pathogenic variants in <jats:italic>ECHS1<\/jats:italic> and <jats:italic>HIBC<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reviewed a series of 18 patients (HIBCHD: 5; ECHS1D: 13) as well as 105 patients from the literature. We analysed the detailed phenotype of HIBCHD (38 patients) and ECHS1D (85 patients), focusing on MDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The two diseases have a very similar neurological phenotype, with an early onset before 10\u2009years of age for three clinical presentations: neonatal onset, Leigh\u2010like syndrome (progressive onset or acute neurological decompensation), and isolated paroxysmal dyskinesia. Permanent or paroxysmal MDs were recorded in 61% of HIBCHD patients and 72% of ECHS1D patients. Patients had a variable combination of either isolated or combined MD, and dystonia was the main MD. These continuous MDs included dystonia, chorea, parkinsonism, athetosis, myoclonus, tremors, and abnormal eye movements. Patients with paroxysmal dyskinesia (HIBCHD: 4; ECHS1D: 9) usually had pure paroxysmal dystonia with normal clinical examination and no major impairment in psychomotor development. No correlation could be identified between clinical pattern (especially MD) and genetic pathogenic variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Movement disorders, including abnormal ocular movements, are a hallmark of HIBCHD and ECHS1D. MDs are not uniform; dystonia is the most frequent, and various types of MD are combined in single patient.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15515","type":"journal-article","created":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T08:14:30Z","timestamp":1659082470000},"page":"3229-3242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Movement disorders in valine m\u00e9tabolism diseases caused by <scp><i>HIBCH<\/i><\/scp> and <scp><i>ECHS1<\/i><\/scp> deficiencies"],"prefix":"10.1111","volume":"29","author":[{"given":"Marie\u2010C\u00e9line","family":"Fran\u00e7ois\u2010Heude","sequence":"first","affiliation":[{"name":"CHU Montpellier, D\u00e9partement de Neurop\u00e9diatrie Univ Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Lebigot","sequence":"additional","affiliation":[{"name":"Biochemistry Department APHP Paris Saclay, 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