| Smell testing: an additional tool for identification of adult Refsum's disease. | |
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MedLine Citation:
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PMID: 15314127 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated. OBJECTIVE: To investigate the prevalence and degree of olfactory dysfunction in patients with ARD. METHOD: The olfactory function of 16 patients with ARD was assessed using the quantitative University of Pennsylvania Smell Identification Test (UPSIT). RESULTS: All patients had complete anosmia or grossly impaired smell function with a mean UPSIT score of 14.7 (SD 4.7) (normal > 34) despite having been treated with an appropriate diet for a median of 15 years (range 1-25). CONCLUSIONS: Identification of ARD patients can be facilitated by using the UPSIT in combination with the presence of retinitis pigmentosa, even if they have no neurological or bony features. Phytanic acid screening should be performed in any patient manifesting these two signs. |
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Authors:
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F B Gibberd; M D Feher; M C Sidey; A S Wierzbicki |
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Publication Detail:
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Type: Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of neurology, neurosurgery, and psychiatry Volume: 75 ISSN: 0022-3050 ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 2004 Sep |
Date Detail:
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Created Date: 2004-08-17 Completed Date: 2004-09-14 Revised Date: 2008-11-20 |
Medline Journal Info:
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Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: England |
Other Details:
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Languages: eng Pagination: 1334-6 Citation Subset: IM |
Affiliation:
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Refsum's Disease Clinic, Chelsea & Westminster Hospital, 369 Fulham Road, London SW10 9NH, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Diagnosis, Differential Female Humans Male Middle Aged Olfaction Disorders / etiology* Prevalence Refsum Disease / complications, diagnosis* Retinitis Pigmentosa / etiology Sensitivity and Specificity |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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