| Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review. | |
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MedLine Citation:
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PMID: 18332257 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21. DESIGN: Case report of a single patient. SETTING: Tertiary referral dementia clinic. PATIENT: A 55-year-old man with a mild degree of developmental delay but no previous diagnosis of Down syndrome and only minimal physical manifestations of Down syndrome presented with gradually progressive cognitive impairment consistent with probable AD. RESULTS: Fluorescent in situ hybridization analysis of interphase chromosomes revealed trisomy 21 in 10% of peripheral lymphocytes. CONCLUSIONS: As mosaicism for trisomy 21 can present with no or minimal manifestations of Down syndrome, it may be underdiagnosed as a cause of early-onset AD. Occult mosaicism for trisomy 21 may explain in part the previously described association between family history of Down syndrome and risk of AD. Screening for mosaicism with fluorescent in situ hybridization is indicated in selected patients with mild developmental delay and those with AD of young onset. |
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Authors:
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John M Ringman; P Nagesh Rao; Po H Lu; Stephen Cederbaum |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: Archives of neurology Volume: 65 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-03-11 Completed Date: 2008-05-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 412-5 Citation Subset: AIM; IM |
Affiliation:
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Alzheimer's Disease Research Center, Department of Neurology, University of California, Los Angeles, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095-7226, USA. jringman@mednet.ucla.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alzheimer Disease
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etiology*,
genetics Down Syndrome / complications*, genetics Humans Male Middle Aged Mosaicism* |
| Grant Support | |
ID/Acronym/Agency:
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AG-16570/AG/NIA NIH HHS; K08 AG-22228/AG/NIA NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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