title: Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.
abstract: OBJECTIVE
  To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging.
  
  
  METHODS
  T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls.
  
  
  RESULTS
  Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p<0.001 uncorrected) in the left precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus.
  
  
  CONCLUSIONS
  CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.
authors.affiliation: State Key Laboratory of Management and Control for Complex Systems, Institute of Automation, Chinese Academy of Sciences, Beijing, China.
authors.forename: Wen
authors.initials: W
authors.lastname: Miao
authors.affiliation: Department of Radiology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
authors.forename: Fengyuan
authors.initials: F
authors.lastname: Man
authors.affiliation: Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
authors.forename: Shaoqin
authors.initials: S
authors.lastname: Wu
authors.affiliation: China Academy of Telecommunication Research of Ministry of Industry and Information Technology, Beijing, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Lv
authors.affiliation: Beijing Friendship Hospital, Capital Medical University, Beijing, China.
authors.forename: Zhenchang
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Radiology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
authors.forename: Junfang
authors.initials: J
authors.lastname: Xian
authors.affiliation: State Key Laboratory of Management and Control for Complex Systems, Institute of Automation, Chinese Academy of Sciences, Beijing, China; Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China; Otto-von-Guericke University of Magdeburg, Medical Faculty, Institute of Medical Psychology, Magdeburg, Germany.
authors.forename: Bernhard A
authors.initials: BA
authors.lastname: Sabel
authors.affiliation: State Key Laboratory of Management and Control for Complex Systems, Institute of Automation, Chinese Academy of Sciences, Beijing, China.
authors.forename: Huiguang
authors.initials: H
authors.lastname: He
authors.affiliation: Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China.
authors.forename: Yonghong
authors.initials: Y
authors.lastname: Jiao
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D001931:Brain Mapping; D015785:Eye Diseases, Hereditary / Q000175:diagnosis; D005260:Female; D005355:Fibrosis; D066128:Gray Matter / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D064847:Multimodal Imaging; D009886:Ophthalmoplegia; D000093922:Congenital Cranial Dysinnervation Disorders