| A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. | |
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MedLine Citation:
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PMID: 23337002 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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The cerebellum plays an important role in motor learning and cognition, and structural cerebellar abnormalities have been associated with cognitive impairment. In tuberous sclerosis complex, neurologic outcome is highly variable, and no consistent imaging or pathologic determinant of cognition has been firmly established. The cerebellum calls for specific attention because mouse models of tuberous sclerosis complex have demonstrated a loss of cerebellar Purkinje cells, and cases of human histologic data have demonstrated a similar loss in patients. We hypothesized that there might be a common cerebellar finding in tuberous sclerosis complex that could be measured as morphometric changes with magnetic resonance imaging. Using a robust, automated image analysis procedure, we studied 36 patients with tuberous sclerosis complex and age-matched control subjects and observed significant volume loss among patients in the cerebellar cortices and vermis. Furthermore, this effect was strongest in a subgroup of 19 patients with a known, pathogenic mutation of the tuberous sclerosis 2 gene and impacted all cerebellar structures. We conclude that patients with tuberous sclerosis complex exhibit volume loss in the cerebellum, and this loss is larger and more widespread in patients with a tuberous sclerosis 2 mutation. |
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Authors:
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Neil I Weisenfeld; Jurriaan M Peters; Peter T Tsai; Sanjay P Prabhu; Kira A Dies; Mustafa Sahin; Simon K Warfield |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 48 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2013 Feb |
Date Detail:
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Created Date: 2013-01-22 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 105-10 Citation Subset: IM |
Copyright Information:
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Copyright © 2013 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Radiology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts. Electronic address: weisen@crl.med.harvard.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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