| Coexisting huntingtin and SCA8 repeat expansion: case report of a severe complex neurodegenerative syndrome. | |
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MedLine Citation:
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PMID: 20403608 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report the case of a 29 year old woman with a complex movement disorder syndrome due to the combination of coexisting pathological triplet repeat expansions of huntingtin and ATXN8 genes. The disease course was characterized by mental disturbances including cognitive decline and changes in personality starting at the age of 12 years, followed by twisting motions, intentional tremor and gait ataxia. Later Parkinsonian symptoms of micrographia, bradykinesia, muscle rigidity and mental decline became dominant. Brain MRI showed hypoplasia of the nucleus caudatus and generalized atrophy; MR spectroscopy revealed a decrease of all typical metabolites except for an increased level of lactate and acetate. Therapeutic trials with pramipexole, ropinirole and tetrabenazine showed no benefit, while levetiracetam caused agitation and hallucinations. We discuss phenotype-genotype correlation and the rule of triplet repeat expansions of gene ATXN8. |
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Authors:
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Benjamin Bereznai; Gábor Lovas; Klára Pentelenyi; Gábor Rudas; Mária Judit Molnar |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-04-18 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 293 ISSN: 1878-5883 ISO Abbreviation: J. Neurol. Sci. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-05-17 Completed Date: 2010-08-12 Revised Date: 2010-09-22 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: Netherlands |
Other Details:
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Languages: eng Pagination: 116-8 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Clinical and Research Center of Molecular Neurology, Semmelweis University, Budapest, Hungary. bereznaib@neur.sote.hu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Brain / pathology DNA Mutational Analysis / methods Female Humans Magnetic Resonance Imaging / methods Nerve Tissue Proteins / genetics* Neurodegenerative Diseases / genetics* Nuclear Proteins / genetics* Trinucleotide Repeat Expansion / genetics* |
| Chemical | |
Reg. No./Substance:
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0/ATXN8OS gene product, human; 0/HD protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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