| Stiff man-like syndrome and generalized myokymia in spinocerebellar ataxia type 3. | |
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MedLine Citation:
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PMID: 16552763 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe the novel association of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) phenotype combining classical clinical presentation and semeiology mimicking stiff man syndrome (SMS). The studied pedigree comprises seven affected members in three generations. Their clinical picture consisted of cerebellar ataxia, pyramidal signs, facial myokymia, and ophthalmoplegia. The proband was a 39-year-old man in whom such a clinical picture, 5 years after onset at age 29, evolved to severe SMS and widespread myokymia. Electrophysiological study revealed continuous muscle activity in proximal limb muscles. Molecular study demonstrated the MJD gene mutation in all four examined patients with 73 to 76 CAG repeats in the expanded allele. We conclude that an excess of motor unit activity including stiff man-like syndrome and widespread myokymia may be an integral part of the SCA3 clinical spectrum. |
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Authors:
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José Berciano; Jon Infante; Antonio García; Carmen de Pablos; Guillermo Amer; José Miguel Polo; Victor Volpini; Onofre Combarros |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
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 Jul |
Date Detail:
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Created Date: 2006-08-28 Completed Date: 2006-12-15 Revised Date: - |
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: 1031-5 Citation Subset: IM |
Copyright Information:
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(c) 2006 Movement Disorder Society. |
Affiliation:
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Service of Neurology, University Hospital Marqués de Valdecilla, (UC) Santander, Spain. jaberciano@humv.es |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Alleles Atrophy Brain Stem / pathology Cerebellum / pathology Diagnosis, Differential Disease Progression Female Humans Machado-Joseph Disease / diagnosis, genetics* Magnetic Resonance Imaging Male Middle Aged Myokymia / diagnosis, genetics* Nerve Tissue Proteins / genetics Neurologic Examination Nuclear Proteins / genetics Ophthalmoplegia / diagnosis, genetics Pedigree Phenotype Repressor Proteins / genetics Stiff-Person Syndrome / diagnosis, genetics* Tomography, X-Ray Computed |
| Chemical | |
Reg. No./Substance:
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0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Repressor Proteins; EC 3.4.22.-/ATXN3 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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