CONTEXT: In monocarboxylate transporter 8 (MCT8) gene deficiency, a syndrome combining thyroid and neurological abnormalities, the central nervous system has not yet been characterized by magnetic resonance (MR) spectroscopy. OBJECTIVE: We studied whether the degree of dysmyelinization in MCT8 gene deficiency according to MR imaging (MRI) is coupled with abnormalities in brain metabolism. DESIGN: MRI and MR spectroscopy of the brain were performed twice in two MCT8 gene deficiency patients, for the first time at age 8-10 months and for the second time at age 17-28 months. The results were compared with those obtained in controls of a similar age. RESULTS: Compared with controls, young children with MCT8 show choline and myoinositol level increases and N-acetyl aspartate decreases in supraventricular gray and white matter, phenomena associated with the degree of dysmyelinization according to MRI. CONCLUSION: MCT8 gene deficiency results in deviant myelinization and general atrophy, which is substantiated by the MR spectroscopy findings of increased choline and myoinositol levels and decreased N-acetyl aspartate. The observations suggest that different mutations in the MCT8 gene lead to differences in the severity of the clinical spectrum, dysmyelinization, and MR spectroscopy-detectable changes in brain metabolism.
CONTEXT: In monocarboxylate transporter 8 (MCT8) gene deficiency, a syndrome combining thyroid and neurological abnormalities, the central nervous system has not yet been characterized by magnetic resonance (MR) spectroscopy. OBJECTIVE: We studied whether the degree of dysmyelinization in MCT8 gene deficiency according to MR imaging (MRI) is coupled with abnormalities in brain metabolism. DESIGN: MRI and MR spectroscopy of the brain were performed twice in two MCT8 gene deficiencypatients, for the first time at age 8-10 months and for the second time at age 17-28 months. The results were compared with those obtained in controls of a similar age. RESULTS: Compared with controls, young children with MCT8 show choline and myoinositol level increases and N-acetyl aspartate decreases in supraventricular gray and white matter, phenomena associated with the degree of dysmyelinization according to MRI. CONCLUSION:MCT8 gene deficiency results in deviant myelinization and general atrophy, which is substantiated by the MR spectroscopy findings of increased choline and myoinositol levels and decreased N-acetyl aspartate. The observations suggest that different mutations in the MCT8 gene lead to differences in the severity of the clinical spectrum, dysmyelinization, and MR spectroscopy-detectable changes in brain metabolism.
Authors: Artemis D Gika; Ata Siddiqui; Anthony J Hulse; Selvakumari Edward; Penny Fallon; Meriel E McEntagart; Wajanat Jan; Dragana Josifova; Tally Lerman-Sagie; James Drummond; Edward Thompson; Samuel Refetoff; Carsten G Bönnemann; Heinz Jungbluth Journal: Dev Med Child Neurol Date: 2009-10-07 Impact factor: 5.449
Authors: Stefan Groeneweg; Ferdy S van Geest; Ayhan Abacı; Alberto Alcantud; Gautem P Ambegaonkar; Christine M Armour; Priyanka Bakhtiani; Diana Barca; Enrico S Bertini; Ingrid M van Beynum; Nicola Brunetti-Pierri; Marianna Bugiani; Marco Cappa; Gerarda Cappuccio; Barbara Castellotti; Claudia Castiglioni; Krishna Chatterjee; Irenaeus F M de Coo; Régis Coutant; Dana Craiu; Patricia Crock; Christian DeGoede; Korcan Demir; Alice Dica; Paul Dimitri; Anna Dolcetta-Capuzzo; Marjolein H G Dremmen; Rachana Dubey; Anina Enderli; Jan Fairchild; Jonathan Gallichan; Belinda George; Evelien F Gevers; Annette Hackenberg; Zita Halász; Bianka Heinrich; Tony Huynh; Anna Kłosowska; Marjo S van der Knaap; Marieke M van der Knoop; Daniel Konrad; David A Koolen; Heiko Krude; Amy Lawson-Yuen; Jan Lebl; Michaela Linder-Lucht; Cláudia F Lorea; Charles M Lourenço; Roelineke J Lunsing; Greta Lyons; Jana Malikova; Edna E Mancilla; Anne McGowan; Veronica Mericq; Felipe M Lora; Carla Moran; Katalin E Müller; Isabelle Oliver-Petit; Laura Paone; Praveen G Paul; Michel Polak; Francesco Porta; Fabiano O Poswar; Christina Reinauer; Klara Rozenkova; Tuba S Menevse; Peter Simm; Anna Simon; Yogen Singh; Marco Spada; Jet van der Spek; Milou A M Stals; Athanasia Stoupa; Gopinath M Subramanian; Davide Tonduti; Serap Turan; Corstiaan A den Uil; Joel Vanderniet; Adri van der Walt; Jean-Louis Wémeau; Jolante Wierzba; Marie-Claire Y de Wit; Nicole I Wolf; Michael Wurm; Federica Zibordi; Amnon Zung; Nitash Zwaveling-Soonawala; W Edward Visser Journal: Lancet Diabetes Endocrinol Date: 2020-07 Impact factor: 32.069
Authors: Tiago B Rodrigues; Ainhoa Ceballos; Carmen Grijota-Martínez; Barbara Nuñez; Samuel Refetoff; Sebastian Cerdán; Beatriz Morte; Juan Bernal Journal: PLoS One Date: 2013-10-01 Impact factor: 3.240