Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration-Reference-Cited by-同舟云学术

Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration

Published:2019-09-13 Issue:1 Volume:35 Page:142-150
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov Disord

Author:

Dusek Petr¹²,Mekle Ralf³⁴,Skowronska Marta⁵,Acosta‐Cabronero Julio⁶,Huelnhagen Till⁷,Robinson Simon Daniel⁸,Schubert Florian³,Deschauer Marcus⁹,Els Antje⁷,Ittermann Bernd³,Schottmann Gudrun¹⁰,Madai Vince I.⁴¹¹,Paul Friedemann¹⁰,Klopstock Thomas¹²¹³¹⁴,Kmiec Tomasz¹⁵,Niendorf Thoralf⁷,Wuerfel Jens¹⁰¹⁶,Schneider Susanne A.¹⁷

Affiliation:

1. Department of Neurology and Centre of Clinical Neuroscience Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czechia

2. Department of Radiology Charles University, 1st Faculty of Medicine and General University Hospital in Prague Prague Czechia

3. Physikalisch‐Technische Bundesanstalt (PTB) Braunschweig and Berlin Germany

4. Center for Stroke Research Berlin (CSB) Charité Universitätsmedizin Berlin Berlin Germany

5. 2nd Department of Neurology Institute of Psychiatry and Neurology Warsaw Poland

6. Wellcome Centre for Human Neuroimaging UCL Institute of Neurology, University College London London United Kingdom

7. Berlin Ultrahigh Field Facility (B.U.F.F.) Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany

8. High Field MR Centre, Department of Biomedical Imaging and Image‐guided Therapy Medical University of Vienna Vienna Austria

9. Department of Neurology Technical University Munich Munich Germany

10. NeuroCure Clinical Research Center and Experimental and Clinical Research Center Max Delbrueck Center for Molecular Medicine and Charité‐Universitaetsmedizin Berlin Berlin Germany

11. Department of Neurosurgery Charité Universitätsmedizin Berlin Berlin Germany

12. Department of Neurology with Friedrich‐Baur‐Institute Ludwig‐Maximilians‐University of Munich Munich Germany

13. German Center for Neurodegenerative Diseases (DZNE) Munich Germany

14. Munich Cluster for Systems Neurology (SyNergy) Munich Germany

15. Department of Neurology and Epileptology The Children's Memorial Health Institute Warsaw Poland

16. Medical Image Analysis Center and Department Biomedical Engineering University Basel Basel Switzerland

17. Neurology Department Ludwig Maximilians‐University of Munich Germany

Funder

Else Kröner-Fresenius-Stiftung

European Commission

Eva Luise und Horst Köhler Stiftung

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.27827

Reference44 articles.

1. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA);Schneider SA;Curr Neuropharmacol,2013

2. Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

3. Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca2+

4. New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN

5. Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

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