| Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome. | |
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MedLine Citation:
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PMID: 15639410 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The fragile X premutation tremor/ataxia syndrome (FXTAS) is a recently described adult-onset neurodegenerative disorder, in which ataxia, tremor, cognitive decline, parkinsonism, neuropathy and autonomic dysfunction occur in various combinations. It is reported to display a characteristic MRI appearance, with increased T2 signal in the middle cerebellar peduncles and around the dentate nuclei. Diagnostic criteria have been proposed on the basis of these clinical and radiological features, presupposing that a CGG expansion has been demonstrated. We present three cases in which MRI and clinical findings suggested the possibility of FXTAS, although only one was confirmed on genetic testing. The phenotypic overlap with multiple system atrophy of cerebellar type (MSA-C) and the importance of genetic confirmation are emphasised. |
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Authors:
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Elsdon Storey; Phiroz Billimoria |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia Volume: 12 ISSN: 0967-5868 ISO Abbreviation: J Clin Neurosci Publication Date: 2005 Jan |
Date Detail:
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Created Date: 2005-01-10 Completed Date: 2006-05-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9433352 Medline TA: J Clin Neurosci Country: Scotland |
Other Details:
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Languages: eng Pagination: 42-3 Citation Subset: IM |
Affiliation:
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Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, Vic., Australia. elsdon.storey@med.monash.edu.au |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Cerebellum / pathology* Female Fragile X Syndrome / genetics, pathology* Humans Magnetic Resonance Imaging Male Middle Aged Multiple System Atrophy / etiology, pathology Tremor / etiology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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