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Article

Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.

Neurology - 13 Jul 2021

Shibao Cyndya A, Joos Karen, Phillips John A, Cogan Joy, Newman John H, Hamid Rizwan, Meiler Jens, Capra John, Sheehan Jonathan, Vetrini Francesco, Yang Yaping, Black Bonnie, Diedrich André, Roberston David, Biaggioni Italo

Abstract excerpt

OBJECTIVE: To determine the molecular basis of a new monogenetic recessive disorder that results in familial autonomic ganglionopathy with diffuse autonomic failure. METHODS: Two adult siblings from one family (I-4 and I-5) and another participant from a second family (II-3) presented with severe neurogenic orthostatic hypotension (nOH), small nonreactive pupils, and constipation. All 3 affected members had low...

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Identifiers

PMID: 33947782
DOI: 10.1212/WNL.0000000000012143
PMCID: PMC8279568

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