| A Japanese case of Fragile-X-associated tremor/ataxia syndrome (FXTAS). | |
| | |
MedLine Citation:
|
PMID: 20558944 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
|
A 71-year-old man developed postural tremor and was treated as an essential tremor patient. Nine years after the tremor onset, he developed symptoms resembling Fragile-X-associated tremor/ataxia syndrome (FXTAS), including exacerbated (increased coarseness and amplitude) tremor in the right arm, ataxic gait, and brain MRI showed lesions in the bilateral middle cerebellar peduncles (MCP). Evidence of premutation in the form of 83 CGG repeats of the Fragile-X-mental retardation 1 (FMR1) gene confirmed the diagnosis of FXTAS. FXTAS causes various neurological symptoms including in some cases tremor resembling essential tremor in the early stages. FMR1 gene premutation should be checked when the patient develops intention tremor, cerebral dysfunction and/or a brain MRI shows MCP lesions. |
| | |
Authors:
|
Kazuhiro Ishii; Ai Hosaka; Kaori Adachi; Eiji Nanba; Akira Tamaoka |
Related Documents
:
|
10705684 - Physiologic effects of stellate ganglion block: a result of complete ganglion blockade ... 20655684 - Early side effects after embolization of a carotid body tumor using onyx. 16131424 - Fxtas: a progressive neurologic syndrome associated with fragile x premutation. 1514404 - Congenital horner's syndrome: report of one case. 6494614 - The dyskinetic cilia syndrome in childhood. modifications of ultrastructural patterns. 10705684 - Physiologic effects of stellate ganglion block: a result of complete ganglion blockade ... |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2010-06-15 |
Journal Detail:
|
Title: Internal medicine (Tokyo, Japan) Volume: 49 ISSN: 1349-7235 ISO Abbreviation: Intern. Med. Publication Date: 2010 |
Date Detail:
|
Created Date: 2010-06-18 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9204241 Medline TA: Intern Med Country: Japan |
Other Details:
|
Languages: eng Pagination: 1205-8 Citation Subset: IM |
Affiliation:
|
Department of Neurology, Institute of Clinical Medicine, Majors of Medical Sciences, Graduate School of Comprehensive Human Sciences University of Tsukuba, Tsukuba, Japan. kazishii@md.tsukuba.ac.jp |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Self-remitting and reversible parkinsonism associated with neuro-sweet disease.
Next Document: Familial ALS with G298S mutation in TARDBP: a comparison of CSF tau protein levels with those in spo...