@article{RN299,
   author = {Haast, R. A. M. and De Coo, I. F. M. and Ivanov, D. and Khan, A. R. and Jansen, J. F. A. and Smeets, H. J. M. and Uludag, K.},
   title = {Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients},
   journal = {Brain Commun},
   volume = {4},
   number = {1},
   pages = {fcac024},
   note = {Haast, Roy A M
De Coo, Irenaeus F M
Ivanov, Dimo
Khan, Ali R
Jansen, Jacobus F A
Smeets, Hubert J M
Uludag, Kamil
eng
England
Brain Commun. 2022 Feb 3;4(1):fcac024. doi: 10.1093/braincomms/fcac024. eCollection 2022.},
   abstract = {Mutations of the mitochondrial DNA are an important cause of inherited diseases that can severely affect the tissue's homeostasis and integrity. The m.3243A > G mutation is the most commonly observed across mitochondrial disorders and is linked to multisystemic complications, including cognitive deficits. In line with in vitro experiments demonstrating the m.3243A > G's negative impact on neuronal energy production and integrity, m.3243A > G patients show cerebral grey matter tissue changes. However, its impact on the most neuron dense, and therefore energy-consuming brain structure-the cerebellum-remains elusive. In this work, we used high-resolution structural and functional data acquired using 7 T MRI to characterize the neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients. Our results reveal altered tissue integrity within distinct clusters across the cerebellar cortex, apparent by their significantly reduced volume and longitudinal relaxation rate compared with healthy controls, indicating macroscopic atrophy and microstructural pathology. Spatial characterization reveals that these changes occur especially in regions related to the frontoparietal brain network that is involved in information processing and selective attention. In addition, based on resting-state functional MRI data, these clusters exhibit reduced functional connectivity to frontal and parietal cortical regions, especially in patients characterized by (i) a severe disease phenotype and (ii) reduced information-processing speed and attention control. Combined with our previous work, these results provide insight into the neuropathological changes and a solid base to guide longitudinal studies aimed to track disease progression.},
   keywords = {Mri
cerebellum
function
m.3243A > G
structure},
   ISSN = {2632-1297 (Electronic)
2632-1297 (Linking)},
   DOI = {10.1093/braincomms/fcac024},
   url = {https://www.ncbi.nlm.nih.gov/pubmed/35187487},
   year = {2022},
   type = {Journal Article}
}

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M.","Uludag, K."],"bibdata":{"bibtype":"article","type":"Journal Article","author":[{"propositions":[],"lastnames":["Haast"],"firstnames":["R.","A.","M."],"suffixes":[]},{"propositions":[],"lastnames":["De","Coo"],"firstnames":["I.","F.","M."],"suffixes":[]},{"propositions":[],"lastnames":["Ivanov"],"firstnames":["D."],"suffixes":[]},{"propositions":[],"lastnames":["Khan"],"firstnames":["A.","R."],"suffixes":[]},{"propositions":[],"lastnames":["Jansen"],"firstnames":["J.","F.","A."],"suffixes":[]},{"propositions":[],"lastnames":["Smeets"],"firstnames":["H.","J.","M."],"suffixes":[]},{"propositions":[],"lastnames":["Uludag"],"firstnames":["K."],"suffixes":[]}],"title":"Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients","journal":"Brain Commun","volume":"4","number":"1","pages":"fcac024","note":"Haast, Roy A M De Coo, Irenaeus F M Ivanov, Dimo Khan, Ali R Jansen, Jacobus F A Smeets, Hubert J M Uludag, Kamil eng England Brain Commun. 2022 Feb 3;4(1):fcac024. doi: 10.1093/braincomms/fcac024. eCollection 2022.","abstract":"Mutations of the mitochondrial DNA are an important cause of inherited diseases that can severely affect the tissue's homeostasis and integrity. The m.3243A > G mutation is the most commonly observed across mitochondrial disorders and is linked to multisystemic complications, including cognitive deficits. In line with in vitro experiments demonstrating the m.3243A > G's negative impact on neuronal energy production and integrity, m.3243A > G patients show cerebral grey matter tissue changes. However, its impact on the most neuron dense, and therefore energy-consuming brain structure-the cerebellum-remains elusive. In this work, we used high-resolution structural and functional data acquired using 7 T MRI to characterize the neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients. Our results reveal altered tissue integrity within distinct clusters across the cerebellar cortex, apparent by their significantly reduced volume and longitudinal relaxation rate compared with healthy controls, indicating macroscopic atrophy and microstructural pathology. Spatial characterization reveals that these changes occur especially in regions related to the frontoparietal brain network that is involved in information processing and selective attention. In addition, based on resting-state functional MRI data, these clusters exhibit reduced functional connectivity to frontal and parietal cortical regions, especially in patients characterized by (i) a severe disease phenotype and (ii) reduced information-processing speed and attention control. Combined with our previous work, these results provide insight into the neuropathological changes and a solid base to guide longitudinal studies aimed to track disease progression.","keywords":"Mri cerebellum function m.3243A > G structure","issn":"2632-1297 (Electronic) 2632-1297 (Linking)","doi":"10.1093/braincomms/fcac024","url":"https://www.ncbi.nlm.nih.gov/pubmed/35187487","year":"2022","bibtex":"@article{RN299,\n author = {Haast, R. A. M. and De Coo, I. F. M. and Ivanov, D. and Khan, A. R. and Jansen, J. F. A. and Smeets, H. J. M. and Uludag, K.},\n title = {Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients},\n journal = {Brain Commun},\n volume = {4},\n number = {1},\n pages = {fcac024},\n note = {Haast, Roy A M\nDe Coo, Irenaeus F M\nIvanov, Dimo\nKhan, Ali R\nJansen, Jacobus F A\nSmeets, Hubert J M\nUludag, Kamil\neng\nEngland\nBrain Commun. 2022 Feb 3;4(1):fcac024. doi: 10.1093/braincomms/fcac024. eCollection 2022.},\n abstract = {Mutations of the mitochondrial DNA are an important cause of inherited diseases that can severely affect the tissue's homeostasis and integrity. The m.3243A > G mutation is the most commonly observed across mitochondrial disorders and is linked to multisystemic complications, including cognitive deficits. In line with in vitro experiments demonstrating the m.3243A > G's negative impact on neuronal energy production and integrity, m.3243A > G patients show cerebral grey matter tissue changes. However, its impact on the most neuron dense, and therefore energy-consuming brain structure-the cerebellum-remains elusive. In this work, we used high-resolution structural and functional data acquired using 7 T MRI to characterize the neurodegenerative and functional signatures of the cerebellar cortex in m.3243A > G patients. Our results reveal altered tissue integrity within distinct clusters across the cerebellar cortex, apparent by their significantly reduced volume and longitudinal relaxation rate compared with healthy controls, indicating macroscopic atrophy and microstructural pathology. Spatial characterization reveals that these changes occur especially in regions related to the frontoparietal brain network that is involved in information processing and selective attention. In addition, based on resting-state functional MRI data, these clusters exhibit reduced functional connectivity to frontal and parietal cortical regions, especially in patients characterized by (i) a severe disease phenotype and (ii) reduced information-processing speed and attention control. Combined with our previous work, these results provide insight into the neuropathological changes and a solid base to guide longitudinal studies aimed to track disease progression.},\n keywords = {Mri\ncerebellum\nfunction\nm.3243A > G\nstructure},\n ISSN = {2632-1297 (Electronic)\n2632-1297 (Linking)},\n DOI = {10.1093/braincomms/fcac024},\n url = {https://www.ncbi.nlm.nih.gov/pubmed/35187487},\n year = {2022},\n type = {Journal Article}\n}\n\n","author_short":["Haast, R. A. M.","De Coo, I. F. M.","Ivanov, D.","Khan, A. R.","Jansen, J. F. A.","Smeets, H. J. 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