| Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. | |
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MedLine Citation:
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PMID: 20943236 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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We report the case of a 23-year-old Italian female harboring the rare m.3291T>C mutation in the MT-TL1 gene, that encodes the mitochondrial transfer RNA for leucine 1 (UUA/G). MT-TL1 mutations usually cause the MELAS (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes) syndrome. Our patient, however, suffered from a non-syndromic mitochondrial disorder (MID), clinically characterized by progressive cognitive and behavioral decline, and hearing loss; brain MRI disclosed diffuse supratentorial and infratentorial atrophy; EKG revealed a Wolff-Parkinson-White syndrome; combined neuroleptic and antidepressant treatment markedly improved her behavioral symptoms. This case expands the clinical spectrum of non-syndromic MIDs, and further confirms that no obvious genotype-phenotype correlation exists for the m.3291T>C DNA mutation; indeed, this mutation has been previously reported in a Japanese child, who suffered from MELAS, and in an Italian child, who presented an apparently isolated mild myopathy. Moreover, it supports the hypothesis that at least in MT-TL1-related MIDs, dementia may be caused by a progressive neurodegenerative process, rather than by injury accumulation due to stroke-like episodes. Finally, our case suggests that common neuroleptic and antidepressant drugs may be clinically efficacious in the management of psychiatric symptoms associated with MIDs. |
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Authors:
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Ettore Salsano; Anna Rita Giovagnoli; Lucia Morandi; Carmelo Maccagnano; Eleonora Lamantea; Chiara Marchesi; Massimo Zeviani; Davide Pareyson |
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Publication Detail:
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Type: Journal Article Date: 2010-10-12 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 300 ISSN: 1878-5883 ISO Abbreviation: J. Neurol. Sci. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-24 Completed Date: - Revised Date: - |
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: 165-8 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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IRCCS Foundation, C. Besta Neurological Institute, Via Celoria 11, 20133 Milano, Italy. ettore.salsano@istituto-besta.it |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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