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Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration
P. Dusek, R. Mekle, M. Skowronska, J. Acosta-Cabronero, T. Huelnhagen, SD. Robinson, F. Schubert, M. Deschauer, A. Els, B. Ittermann, G. Schottmann, VI. Madai, F. Paul, T. Klopstock, T. Kmiec, T. Niendorf, J. Wuerfel, SA. Schneider,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
NV15-25602A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
Medline Complete (EBSCOhost)
od 2012-01-01 do Před 1 rokem
PubMed
31518459
DOI
10.1002/mds.27827
Knihovny.cz E-zdroje
- MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- membránové proteiny genetika MeSH
- mitochondriální membrány metabolismus MeSH
- mitochondriální proteiny genetika MeSH
- mitochondrie metabolismus MeSH
- mozek metabolismus patologie MeSH
- mutace genetika MeSH
- železo metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
BACKGROUND: Mitochondrial membrane protein-associated neurodegeneration is an autosomal-recessive disorder caused by C19orf12 mutations and characterized by iron deposits in the basal ganglia. OBJECTIVES: The aim of this study was to quantify iron concentrations in deep gray matter structures using quantitative susceptibility mapping MRI and to characterize metabolic abnormalities in the pyramidal pathway using 1 H MR spectroscopy in clinically manifesting membrane protein-associated neurodegeneration patients and asymptomatic C19orf12 gene mutation heterozygous carriers. METHODS: We present data of 4 clinically affected membrane protein-associated neurodegeneration patients (mean age: 21.0 ± 2.9 years) and 9 heterozygous gene mutation carriers (mean age: 50.4 ± 9.8 years), compared to age-matched healthy controls. MRI assessments were performed on a 7.0 Tesla whole-body system, consisting of whole-brain gradient-echo scans and short echo time, single-volume MR spectroscopy in the white matter of the precentral/postcentral gyrus. Quantitative susceptibility mapping, a surrogate marker for iron concentration, was performed using a state-of-the-art multiscale dipole inversion approach with focus on the globus pallidus, thalamus, putamen, caudate nucleus, and SN. RESULTS AND CONCLUSION: In membrane protein-associated neurodegeneration patients, magnetic susceptibilities were 2 to 3 times higher in the globus pallidus (P = 0.02) and SN (P = 0.02) compared to controls. In addition, significantly higher magnetic susceptibility was observed in the caudate nucleus (P = 0.02). Non-manifesting heterozygous mutation carriers exhibited significantly increased magnetic susceptibility (relative to controls) in the putamen (P = 0.003) and caudate nucleus (P = 0.001), which may be an endophenotypic marker of genetic heterozygosity. MR spectroscopy revealed significantly increased levels of glutamate, taurine, and the combined concentration of glutamate and glutamine in membrane protein-associated neurodegeneration, which may be a correlate of corticospinal pathway dysfunction frequently observed in membrane protein-associated neurodegeneration patients. © 2019 International Parkinson and Movement Disorder Society.
2nd Department of Neurology Institute of Psychiatry and Neurology Warsaw Poland
Berlin Ultrahigh Field Facility Berlin Germany
Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland
Department of Neurology Technical University Munich Munich Germany
Neurology Department Ludwig Maximilians University of Munich Germany
Physikalisch Technische Bundesanstalt Braunschweig and Berlin Germany
Physikalisch Technische Bundesanstalt Charité Universitätsmedizin Berlin Berlin Germany
Citace poskytuje Crossref.org
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