| Transcranial ultrasound in neurodegeneration with brain iron accumulation (NBIA). | |
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MedLine Citation:
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PMID: 21816641 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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NBIA/HSS is a neurodegenerative disorder associated with iron accumulation in specific brain regions. To date, the diagnosis is obtained by typical MRI changes followed by genetic mutation analysis. This procedure is laborious and limited to a few specially equipped medical centres. Since transcranial sonography (TCS) is widely used for the early diagnosis of PD in adults displaying parenchymal metal deposits, it is likely to be a reliable diagnostic tool for the early diagnosis of NBIA. In 7 patients with proven NBIA and 13 age-matched controls without record of neurological disease TCS was performed by an experienced ultrasound examiner. Data were analysed by two blinded investigators regarding hyperechogenicity and size of the substantia nigra (SN). SN size and hyperechogenicity was significantly increased in patients with NBIA compared to controls (students t-test: p < 0.001). TCS appears to be a non-invasive and inexpensive screening technique in patients with suspected NBIA. Performed by an experienced physician, it could enable an earlier diagnosis and pre-selection of patients for the MRI scan and genetic testing, which are still the diagnostic gold standard. |
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Authors:
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Jan Liman; Andreas Wellmer; Kevin Rostasy; Mathias Bähr; Pawel Kermer |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-2 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: - ISSN: 1532-2130 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-8-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Neurology, University of Göttingen, Robert-Koch-Str. 40, 37075 Göttingen, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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