Document Detail


Triple A syndrome mimicking ALS.
MedLine Citation:
PMID:  18615337     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Maria Strauss; Katrin Koehler; Manuela Krumbholz; Angela Huebner; Stephan Zierz; Marcus Deschauer
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
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:
Created Date:  2008-09-19     Completed Date:  2008-11-18     Revised Date:  2009-11-17    
Medline Journal Info:
Nlm Unique ID:  101283386     Medline TA:  Amyotroph Lateral Scler     Country:  England    
Other Details:
Languages:  eng     Pagination:  315-7     Citation Subset:  IM    
Affiliation:
Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.
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MeSH Terms
Descriptor/Qualifier:
Adrenal Cortex Diseases* / 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:
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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