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Neurocase
Behavior, Cognition and Neuroscience
Volume 26, 2020 - Issue 5
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Research Article

Emotional detachment, gait ataxia, and cerebellar dysconnectivity associated with compound heterozygous mutations in the SPG7 gene

John M. Ringmana Memory and Aging Center, Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USACorrespondence[email protected]
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,
Yuchuan Qiaob USC Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USAView further author information
,
Alexander Garbinc Division of Biokinesiology and Physical Therapy, University of Southern California, Los Angeles, CA, USAView further author information
,
Beth E. Fisherc Division of Biokinesiology and Physical Therapy, University of Southern California, Los Angeles, CA, USAView further author information
,
Brent Fogeld Neurogenetics Program, Department of Neurology, UCLA, Los Angeles, CA, USAView further author information
,
Kecia Watari Knoella Memory and Aging Center, Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USAView further author information
,
Helena C. Chuia Memory and Aging Center, Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USAView further author information
,
Yonggang Shib USC Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA, USAView further author information
&
Jessica E. Rexachd Neurogenetics Program, Department of Neurology, UCLA, Los Angeles, CA, USAView further author information
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Pages 299-304 | Received 27 Apr 2020, Accepted 17 Aug 2020, Published online: 07 Sep 2020

Figures & data

Figure 1. T1-weighted MRI at age 49. Cerebellar atrophy is appreciable in the axial (left) and midline sagittal plane (middle). FDG-PET scan revealed cerebellar hypometabolism.

Figure 1. T1-weighted MRI at age 49. Cerebellar atrophy is appreciable in the axial (left) and midline sagittal plane (middle). FDG-PET scan revealed cerebellar hypometabolism.

Figure 2. Outflow pathways of the superior cerebellar peduncle (left: red; right: green) and inferior cerebellar peduncle (left: yellow; right: cyan), superimposed on the fractional anisotropy map, in which there was significantly elevated diffusion parameters in the patient with the SPG7 mutation relative to controls.

Figure 2. Outflow pathways of the superior cerebellar peduncle (left: red; right: green) and inferior cerebellar peduncle (left: yellow; right: cyan), superimposed on the fractional anisotropy map, in which there was significantly elevated diffusion parameters in the patient with the SPG7 mutation relative to controls.

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