Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed...

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Autores principales: Miyazawa, Haruna, Kimura, Manami, Yonezawa, Hisashi, Maeda, Tetsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990642/
https://www.ncbi.nlm.nih.gov/pubmed/33087664
http://dx.doi.org/10.2169/internalmedicine.5201-20
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author Miyazawa, Haruna
Kimura, Manami
Yonezawa, Hisashi
Maeda, Tetsuya
author_facet Miyazawa, Haruna
Kimura, Manami
Yonezawa, Hisashi
Maeda, Tetsuya
author_sort Miyazawa, Haruna
collection PubMed
description In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings.
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spelling pubmed-79906422021-03-29 Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations Miyazawa, Haruna Kimura, Manami Yonezawa, Hisashi Maeda, Tetsuya Intern Med Case Report In triple A (Allgrove) syndrome, motor neuron disease is a co-morbid condition. We herein report a 38-year-old Japanese man with triple A (Allgrove) syndrome and novel tandem mutations: a novel c.881delT deletion mutation and c.835C>T localized to the AAAS gene. A nerve conduction study revealed marked axonal damage in several motor nerves. Tandem mutations in the AAAS gene may be involved in co-morbid motor neuron disease and aberrant electrophysiological findings. The Japanese Society of Internal Medicine 2020-10-21 2021-03-01 /pmc/articles/PMC7990642/ /pubmed/33087664 http://dx.doi.org/10.2169/internalmedicine.5201-20 Text en Copyright © 2021 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Miyazawa, Haruna
Kimura, Manami
Yonezawa, Hisashi
Maeda, Tetsuya
Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
title Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
title_full Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
title_fullStr Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
title_full_unstemmed Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
title_short Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
title_sort sporadic triple a (allgrove) syndrome with novel tandem mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990642/
https://www.ncbi.nlm.nih.gov/pubmed/33087664
http://dx.doi.org/10.2169/internalmedicine.5201-20
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