| Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. | |
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MedLine Citation:
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PMID: 17726686 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Peripheral neuropathy is common among patients with fragile X-associated tremor ataxia syndrome (FXTAS). Four patients with FXTAS are described with neuropathy as the presenting feature, two having received a prior diagnosis of Charcot-Marie-Tooth (CMT) disease. A fifth is described with neuropathy as the only clinical feature. A functional connection between FXTAS and neuropathy has been suggested by the presence of lamin A/C in the intranuclear, neuronal and astrocytic inclusions of FXTAS, since mutations in lamin A/C are known to give rise to an axonal form of CMT. |
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Authors:
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Randi J Hagerman; Sarah M Coffey; Ricardo Maselli; Kultida Soontarapornchai; James A Brunberg; Maureen A Leehey; Lin Zhang; Louise W Gane; Grace Fenton-Farrell; Flora Tassone; Paul J Hagerman |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 143A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2007 Oct |
Date Detail:
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Created Date: 2007-10-01 Completed Date: 2008-01-15 Revised Date: 2008-05-21 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2256-60 Citation Subset: IM |
Copyright Information:
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2007 Wiley-Liss, Inc |
Affiliation:
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Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA. randi.hagerman@ucdmc.ucdavis.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Aged Ataxia / complications, physiopathology Female Fragile X Syndrome / complications, physiopathology* Humans Male Middle Aged Peripheral Nervous System Diseases / complications* Tremor / complications, physiopathology |
| Grant Support | |
ID/Acronym/Agency:
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AG24488/AG/NIA NIH HHS; HD02274/HD/NICHD NIH HHS; HD036071/HD/NICHD NIH HHS; NS044299/NS/NINDS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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