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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases.
Ann. Neurol. 82, 1004-1015 (2017)
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Objective: 3-Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. Methods: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results: Sixty-seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in > 40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. The urinary marker 3-methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. Interpretation: MEGDHEL syndrome is a progressive deafness–dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004–1015.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Megdel Syndrome; 3-methylglutaconic Aciduria; Mitochondrial Dysfunction; Gene; Encephalopathy; Biosynthesis; Deficiency; Phenotype; Phospholipids; Management
Language
english
Publication Year
2017
HGF-reported in Year
2017
ISSN (print) / ISBN
0364-5134
e-ISSN
1531-8249
Journal
Annals of Neurology
Quellenangaben
Volume: 82,
Issue: 6,
Pages: 1004-1015
Publisher
Wiley
Publishing Place
Hoboken
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)
POF-Topic(s)
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500700-001
PubMed ID
29205472
WOS ID
WOS:000418389700017
Scopus ID
85038411692
Erfassungsdatum
2018-01-29