| Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation. | |
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MedLine Citation:
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PMID: 20588230 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene. |
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Authors:
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Hagen Kunte; George Trendelenburg; Julia Matzen; Manfred Ventz; Uwe Kornak; Lutz Harms |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuro endocrinology letters Volume: 31 ISSN: 0172-780X ISO Abbreviation: Neuro Endocrinol. Lett. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-07-23 Completed Date: 2010-10-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8008373 Medline TA: Neuro Endocrinol Lett Country: Sweden |
Other Details:
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Languages: eng Pagination: 301-3 Citation Subset: IM |
Affiliation:
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Department of Neurology, Charité-Universitätsmedizin Berlin, Germany. hagen.kunte@charite.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Insufficiency
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complications,
genetics* Adult Atrophy / complications Esophageal Achalasia / complications, genetics* Heterozygote Humans Lacrimal Apparatus Diseases / complications, genetics* Male Mutation* Nerve Tissue Proteins / genetics* Nuclear Pore Complex Proteins / genetics* Spinal Cord / pathology* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/AAAS protein, human; 0/Nerve Tissue Proteins; 0/Nuclear Pore Complex Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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