| Intrafamilial variability in fragile X-associated tremor/ataxia syndrome. | |
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MedLine Citation:
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PMID: 16124012 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive adult-onset tremor/ataxia syndrome caused by premutations in the FMR1 gene. In cranial MRI, the most characteristic findings are bilateral T2 hyperintense lesions within the middle cerebellar peduncles. Here we present a sibpair of two affected brothers presenting with very different symptoms (typical FXTAS versus essential tremor-like), disease progression, and MRI findings, illustrating broad intrafamilial variability of FXTAS. Also, their family history suggests further evidence of possible manifestation of FXTAS in women. |
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Authors:
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Nils Peters; Christoph Kamm; Friedrich Asmus; Elke Holinski-Feder; Eduard Kraft; Martin Dichgans; Roland Brüning; Thomas Gasser; Kai Bötzel |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Movement disorders : official journal of the Movement Disorder Society Volume: 21 ISSN: 0885-3185 ISO Abbreviation: Mov. Disord. Publication Date: 2006 Jan |
Date Detail:
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Created Date: 2006-01-19 Completed Date: 2006-07-03 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 8610688 Medline TA: Mov Disord Country: United States |
Other Details:
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Languages: eng Pagination: 98-102 Citation Subset: IM |
Copyright Information:
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Copyright (c) 2005 Movement Disorder Society. |
Affiliation:
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Department of Neurology, Klinikum Grosshadern, Ludwig Maximilians University Munich, Munich, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Atrophy Cerebellum / pathology DNA Mutational Analysis Deep Brain Stimulation Female Follow-Up Studies Fragile X Mental Retardation Protein / genetics* Fragile X Syndrome / diagnosis, genetics*, therapy Gait Apraxia / diagnosis, genetics*, therapy Genetic Variation / genetics* Humans Magnetic Resonance Imaging Male Middle Aged Neurologic Examination Pedigree Sex Factors Spinocerebellar Degenerations / diagnosis, genetics*, therapy Tremor / diagnosis, genetics*, therapy Trinucleotide Repeats / genetics |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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