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Progressive deafnes...
Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
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Maas, R. R. (author)
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Iwanicka-Pronicka, K. (author)
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Kalkan Ucar, S. (author)
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show more...
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Alhaddad, B. (author)
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AlSayed, M. (author)
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Al-Owain, M. A. (author)
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Al-Zaidan, H. I. (author)
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Balasubramaniam, S. (author)
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Barić, I. (author)
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Bubshait, D. K. (author)
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Burlina, A. (author)
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Christodoulou, J. (author)
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Chung, W. K. (author)
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Colombo, R. (author)
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Freisinger, P. (author)
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Garcia Silva, M. T. (author)
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Grunewald, S. (author)
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Haack, T. B. (author)
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van Hasselt, P. M. (author)
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Hikmat, O. (author)
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Hörster, F. (author)
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Isohanni, P. (author)
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Ramzan, K. (author)
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Kovacs-Nagy, R. (author)
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Krumina, Z. (author)
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Martin-Hernandez, E. (author)
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Mayr, J. A. (author)
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McClean, P. (author)
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De Meirleir, L. (author)
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- Naess, K. (author)
- Karolinska Institutet
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Ngu, L. H. (author)
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Pajdowska, M. (author)
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Rahman, S. (author)
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Riordan, G. (author)
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Riley, L. (author)
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Roeben, B. (author)
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Rutsch, F. (author)
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Santer, R. (author)
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Schiff, M. (author)
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Seders, M. (author)
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Sequeira, S. (author)
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Sperl, W. (author)
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Staufner, C. (author)
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Synofzik, M. (author)
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Taylor, R. W. (author)
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Trubicka, J. (author)
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Tsiakas, K. (author)
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Unal, O. (author)
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Wassmer, E. (author)
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Wedatilake, Y. (author)
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Wolff, T. (author)
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Prokisch, H. (author)
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Morava, E. (author)
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Pronicka, E. (author)
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Wevers, R. A. (author)
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de Brouwer, A. P. (author)
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Wortmann, S. B. (author)
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(creator_code:org_t)
- 2017-12-20
- 2017
- English.
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In: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 82:6, s. 1004-1015
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https://gup.ub.gu.se...
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Abstract
Subject headings
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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. © 2017 American Neurological Association
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- 3 methylglutaconic acid
- lactic acid
- carboxylesterase
- SERAC1 protein
- human
- 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome
- aciduria
- adolescent
- adult
- Article
- basal ganglion
- brain disease
- child
- clinical feature
- communication skill
- differential diagnosis
- disease course
- dyskinesia
- dystonia
- epilepsy
- female
- gene
- gene mutation
- genetic variability
- hearing impairment
- human
- human tissue
- hypersalivation
- hypoglycemia
- incidence
- infant
- intellectual impairment
- intelligence
- lactate blood level
- lactic acidosis
- Leigh disease
- liver disease
- liver dysfunction
- liver failure
- major clinical study
- multicenter study
- muscle biopsy
- muscle hypotonia
- neuroimaging
- neuroradiology
- newborn
- newborn disease
- nuclear magnetic resonance imaging
- optic nerve atrophy
- perception deafness
- phenotype
- priority journal
- prognosis
- putamen
- serac1 gene
- spasticity
- speech development
- survival
- tongue disease
- visual impairment
- walking
- amino acid sequence
- clinical trial
- cohort analysis
- deafblindness
- diagnostic imaging
- disease exacerbation
- genetics
- male
- mutation
- preschool child
- young adult
- Carboxylic Ester Hydrolases
- Child
- Preschool
- Cohort Studies
- Deaf-Blind Disorders
- Disease Progression
- Humans
- Infant
- Newborn
- Intellectual Disability
- Optic Atrophy
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Maas, R. R.
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Iwanicka-Pronick ...
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Kalkan Ucar, S.
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Alhaddad, B.
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AlSayed, M.
-
Al-Owain, M. A.
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show more...
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Al-Zaidan, H. I.
-
Balasubramaniam, ...
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Barić, I.
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Bubshait, D. K.
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Burlina, A.
-
Christodoulou, J ...
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Chung, W. K.
-
Colombo, R.
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Darin, Niklas, 1 ...
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Freisinger, P.
-
Garcia Silva, M. ...
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Grunewald, S.
-
Haack, T. B.
-
van Hasselt, P. ...
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Hikmat, O.
-
Hörster, F.
-
Isohanni, P.
-
Ramzan, K.
-
Kovacs-Nagy, R.
-
Krumina, Z.
-
Martin-Hernandez ...
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Mayr, J. A.
-
McClean, P.
-
De Meirleir, L.
-
Naess, K.
-
Ngu, L. H.
-
Pajdowska, M.
-
Rahman, S.
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Riordan, G.
-
Riley, L.
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Roeben, B.
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Rutsch, F.
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Santer, R.
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Schiff, M.
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Seders, M.
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Sequeira, S.
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Sperl, W.
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Staufner, C.
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Synofzik, M.
-
Taylor, R. W.
-
Trubicka, J.
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Tsiakas, K.
-
Unal, O.
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Wassmer, E.
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Wedatilake, Y.
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Wolff, T.
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Prokisch, H.
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Morava, E.
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Pronicka, E.
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Wevers, R. A.
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de Brouwer, A. P ...
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Wortmann, S. B.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Annals of Neurol ...
- By the university
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University of Gothenburg
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Karolinska Institutet