Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction
James A. Brunberg*,
Sebastien Jacquemont
,
Randi J. Hagerman,
,
Elizabeth M. Berry-Kravis¶,
Jim Grigsby|,
Maureen A. Leehey**,
Flora Tassone
,
W. Ted Brown,
Claudia M. Greco|| and
Paul J. Hagerman
* Department of Radiology, University of California, Davis, School of Medicine, CA
Department of Biological Chemistry, University of California, Davis, School of Medicine, CA
M.I.N.D. Institute, University of California Davis Medical Center, Sacramento, CA
Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA
|| Department of Pathology, University of California Davis Medical Center, Sacramento, CA
¶ Department of Pediatrics, Rush Presbyterian Hospital, Chicago, IL
| Department of Medicine, University of Colorado Health Sciences Center, Denver, CO
** Department of Neurology, University of Colorado Health Sciences Center, Denver, CO
Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY
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FIG 1. Images from the case of a 66-year-old man with fragile X premutation.
A–C, Axial view T2-weighted images show high signal intensity in white matter inferior and lateral to the deep cerebellar nuclei. Only slightly increased signal intensity can be seen in the MCPs.
D, Coronal view T1-weighted contrast-enhanced image shows white matter regions of low signal intensity that do not show enhancement.
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FIG 2. Images from the case of a 70-year-old man with fragile X premutation.
A and B, Axial view T2-weighted images show symmetrically increased T2 signal intensity in the cerebellum with mildly increased signal intensity in the MCPs.
C, Coronal view T2-weighted image. Moderate cerebellar volume loss and severe parietal cortical volume loss can be seen with thinning of the corpus callosum. Punctate areas of cerebral white matter increased signal intensity.
D, Sagittal view T1-weighted image shows mild pontine volume loss, decreased anteroposterior dimension of the pons, prominence in prepontine cistern, and severe thinning of the corpus callosum.
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FIG 3. Images from the case of a 61-year-old man with fragile X premutation.
A and B, Increased signal intensity is shown in inferior cerebellar white matter on inversion recovery images. The deep cerebellar nuclei are normal in size and signal intensity. The pons is normal in signal intensity.
C and D, Axial view T1-weighted images show volume loss involving the pontomesencephalic junction with enlargement of the temporal horns and ambient cisterns. The cerebral peduncles are moderately decreased in area (D). Moderate enlargement of the lateral ventricles and cerebral sulci can be seen.
E, Axial view inversion recovery image shows increased signal intensity in the thinned corpus callosum and in periventricular white matter.
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FIG 4. Images from the case of a 69-year-old man with fragile X premutation.
A and B, Axial view T2-weighted images show increased signal intensity in the MCPs, which are slightly thinned in the oblique transverse dimension. Prominence in size of the subarachnoid spaces can be seen. The pons shows a nonspecific right paramedian punctate area of increased signal intensity.
C, Axial view T2-weighted image. Mesencephalon and middle cerebral peduncles are mildly decreased in size, with prominence of the ambient cisterns.
D, Axial view inversion recovery image shows volume loss with increased signal intensity in frontal and parietal white matter and in the genu of the thinned corpus callosum.
E, Coronal view T2-weighted image shows volume loss and increased T2 signal intensity in the frontal white matter and in the thinned corpus callosum.
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