Sporadic Triple A (Allgrove) Syndrome with Novel Tandem Mutations
- Resource Type
- Journal Article
- Authors
- Haruna Miyazawa; Hisashi Yonezawa; Manami Kimura; Tetsuya Maeda
- Source
- Internal Medicine. 2021, 60(5):799
- Subject
- ALADIN
c.835C>T
c.881delT
motor neuron disease
nerve conduction study
triple A (Allgrove) syndrome
- Language
- English
- ISSN
- 0918-2918
1349-7235
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.