| Triple A syndrome mimicking ALS. | |
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MedLine Citation:
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PMID: 18615337 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS. |
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Authors:
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Maria Strauss; Katrin Koehler; Manuela Krumbholz; Angela Huebner; Stephan Zierz; Marcus Deschauer |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases Volume: 9 ISSN: 1471-180X ISO Abbreviation: Amyotroph Lateral Scler Publication Date: 2008 Oct |
Date Detail:
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Created Date: 2008-09-19 Completed Date: 2008-11-18 Revised Date: 2009-11-17 |
Medline Journal Info:
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Nlm Unique ID: 101283386 Medline TA: Amyotroph Lateral Scler Country: England |
Other Details:
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Languages: eng Pagination: 315-7 Citation Subset: IM |
Affiliation:
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Department of Neurology, Martin-Luther-University, Halle, Saale, Germany. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Cortex Diseases*
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diagnosis,
physiopathology Amyotrophic Lateral Sclerosis* / diagnosis, physiopathology Chromosome Disorders* / diagnosis, physiopathology Esophageal Achalasia* / diagnosis, physiopathology Female Humans Nerve Tissue Proteins / genetics* Nuclear Pore Complex Proteins / genetics* 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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