| Adult or late-onset triple A syndrome: case report and literature review. | |
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MedLine Citation:
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PMID: 20674935 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism. Neurologic manifestations of the disease include motor neuron disease-like presentations, motor-sensory or autonomic neuropathy, optic atrophy, cerebellar ataxia, Parkinsonism, and mild dementia. We report a 60-year-old Japanese man with triple A syndrome. He was born to non-consanguineous parents. He underwent a surgical operation for achalasia at age 40, and thereafter, he developed a slowly progressive gait disturbance. Neurological examinations at age 60 revealed limb muscle wasting and weakness with pyramidal tract signs, distal-dominant sensory disturbance, optic atrophy, and autonomic dysfunction. Alacrima was detected using Schirmer test. All of these features were consistent with typical triple A syndrome. He lacked adrenal insufficiency that is frequently observed in patients with the classic phenotype of triple A syndrome. His sural nerve biopsy showed a moderate loss of myelinated fibers and hypomyelination. He was homozygous for a missense mutation, p.R155H, in the disease-causing gene, AAAS. Seven patients with genetically-confirmed, adult or late-onset triple A syndrome, including ours, have been reported to date. All the patients showed upper and lower motor neuron signs (100%), while sensory disturbance (29%) and autonomic dysfunction (57%) were less frequent. Careful assessment for alacrima followed by molecular genetic analysis of AAAS should be considered in patients who show a combined phenotype of motor neuron disease and sensory/autonomic disturbance, even in elderly patients. |
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Authors:
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Katsuya Nakamura; Kunihiro Yoshida; Tsuneaki Yoshinaga; Minori Kodaira; Yasuhiro Shimojima; Yo-Ichi Takei; Hiroshi Morita; Katsuhiko Kayanuma; Shu-Ichi Ikeda |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2010-08-01 |
Journal Detail:
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Title: Journal of the neurological sciences Volume: 297 ISSN: 1878-5883 ISO Abbreviation: J. Neurol. Sci. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-13 Completed Date: 2010-12-28 Revised Date: 2011-12-06 |
Medline Journal Info:
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Nlm Unique ID: 0375403 Medline TA: J Neurol Sci Country: Netherlands |
Other Details:
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Languages: eng Pagination: 85-8 Citation Subset: IM |
Copyright Information:
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Copyright 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Insufficiency*
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genetics,
pathology,
physiopathology DNA Mutational Analysis / methods Esophageal Achalasia* / genetics, pathology, physiopathology Humans Male Middle Aged Muscle, Skeletal / pathology Neural Conduction / physiology Neurologic Examination / methods Sural Nerve / physiopathology Tongue / pathology |
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