Biallelic SERAC1 variants cause 3-methylglutaconic aciduria,dystonia-deafness, encephalopathy, and Leigh-like syndrome(MEGDEL), a rare autosomal recessive mitochondrial disease.1Generally, MEGDEL has neonatal onset and short life expectancy.Neurologically patients present hypotonia, spasticity, epilepsy, andintellectual disability. Disease course is often complicated by non-neurological involvement (eg, hepatopathy, nephropathy).2Recently, SERAC1 variants were linked to milder phenotypeswith minimal systemic manifestations, ranging from juvenile-onsetcomplicated hereditary spastic paraparesis3 to early-onset dystonia-parkinsonism
Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1 / Scacciatella, Giulia; Masetti, Costanza; Yahya, Vidal; Treddenti, Mauro; Oggioni, Gaia; Bocci, Tommaso; Campiglio, Laura; Zardoni, Manuela; Rosci, Chiara; Pengo, Marta; Manfredi, Chiara; Del Bo, Roberto; Monfrini, Edoardo; Di Fonzo, Alessio; Inghilleri, Maurizio; Priori, Alberto. - In: MOVEMENT DISORDERS CLINICAL PRACTICE. - ISSN 2330-1619. - (2025), pp. 1-4. [10.1002/mdc3.70051]
Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1
Manfredi, Chiara;Inghilleri, Maurizio;
2025
Abstract
Biallelic SERAC1 variants cause 3-methylglutaconic aciduria,dystonia-deafness, encephalopathy, and Leigh-like syndrome(MEGDEL), a rare autosomal recessive mitochondrial disease.1Generally, MEGDEL has neonatal onset and short life expectancy.Neurologically patients present hypotonia, spasticity, epilepsy, andintellectual disability. Disease course is often complicated by non-neurological involvement (eg, hepatopathy, nephropathy).2Recently, SERAC1 variants were linked to milder phenotypeswith minimal systemic manifestations, ranging from juvenile-onsetcomplicated hereditary spastic paraparesis3 to early-onset dystonia-parkinsonism| File | Dimensione | Formato | |
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Movement Disord Clin Pract - 2025 - Scacciatella - Adult‐Onset Dystonia‐Parkinsonism Do Not Forget SERAC1.pdf
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