Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations

Haruna Miyazawa, Manami Kimura, Hisashi Yonezawa, Tetsuya Maeda
Internal Medicine 2020 October 21
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 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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