Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analysed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients / Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Mercimek-Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer-Valls, Inés; Domingo-Jimenez, Rosario; Ibáñez, Salvador; Alcoverro-Fortuny, Oscar; Gómez-Alemany, Teresa; de Castro, Pedro; Alfonsi, Chiara; Zafeiriou, Dimitrios I; López-Laso, Eduardo; Guder, Philipp; Santer, René; Honzík, Tomáš; Hoffmann, Georg F; Garbade, Sven F; Sivri, H Serap; Leuzzi, Vincenzo; Jeltsch, Kathrin; García-Cazorla, Angeles; Opladen, Thomas; Harting, Inga. - In: JOURNAL OF INHERITED METABOLIC DISEASE. - ISSN 0141-8955. - (2021). [10.1002/jimd.12360]
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Manti, Filippo;Alfonsi, Chiara;Leuzzi, Vincenzo;
2021
Abstract
Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analysed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs.| File | Dimensione | Formato | |
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