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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Detalles Bibliográficos
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
Descripción
Sumario: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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