Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.
Cyndya A ShibaoKaren M JoosJohn A PhillipsJoy D CoganJohn H NewmanRizwan HamidJens MeilerAnthony CapraJonathan H SheehanFrancesco VetriniYaping YangBonnie BlackAndre DiedrichDavid RoberstonItalo BiaggioniPublished in: Neurology (2021)
We report a novel genetic disease that affected 3 individuals from 2 unrelated families who presented with severe nOH, miosis, and constipation. These patients had rare pathologic variants in the CHRNA3 gene that cosegregate with and are predicted to be the likely cause of their diffuse panautonomic failure.
Keyphrases
- copy number
- end stage renal disease
- genome wide
- ejection fraction
- newly diagnosed
- early onset
- chronic kidney disease
- prognostic factors
- heart rate variability
- neoadjuvant chemotherapy
- squamous cell carcinoma
- gene expression
- blood pressure
- transcription factor
- radiation therapy
- irritable bowel syndrome
- patient reported