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Familial visceral neuropathy: A defined entity?
Author(s) -
Roper E.C.,
Gibson A.,
McAlindon M.E.,
Williams L.H.P.,
Cook J.A.,
Kandler R.H.,
Quarrell O.W.J.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30880
Subject(s) - achalasia , myenteric plexus , medicine , peripheral neuropathy , electromyography , family history , pathology , dysarthria , gastroenterology , esophagus , endocrinology , audiology , immunohistochemistry , psychiatry , diabetes mellitus
Familial visceral neuropathy (FVN) is a heterogeneous group of disorders due to abnormalities of the myenteric plexus. FVN with neuronal intranuclear inclusions is one particular form of FVN with a variable phenotype that includes achalasia, gastro‐esophageal reflux, intestinal dysmotility and pseudo‐obstruction, dysarthria, peripheral neuropathy and pupillary defects, and the presence of intranuclear inclusions within the neurons of the enteric nervous system. We present a four‐generation family in which 10 individuals (7 of whom have been examined) are affected with FVN. The family was previously reported as familial esophageal achalasia, an autosomal recessive condition (MIM200400). At that time, several individuals in a single sibship were affected and there were no manifestations in either parent. Since that report, two individuals have had affected children and the mother has developed symptoms and has abnormalities on electromyography, thus enabling us to reclassify the family. This family provides further evidence of autosomal dominant inheritance, with marked variation in expression. © 2005 Wiley‐Liss, Inc.