Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction

Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society
Frida AhlforsHasse Abrahamsson


Few families with autosomal dominant forms of chronic idiopathic pseudo-obstruction (CIP) have been identified and reported. We compared two families by clinical, laboratory, histopathologic, and genealogical investigations. Ten patients (pts) (five women) from two families, A and B, both with a family history suggesting autosomal dominant CIP, were investigated. All pts had chronic diarrhea, nine of ten pts had chronic abdominal pain and seven of ten chronic vomiting. Median age for onset of symptoms was 23 (A) and 34 years (B). None had dysphagia, urogenital, neurologic, or ocular symptoms. Small bowel transit and jejunal culture were abnormal in eight of nine. Manometry showed severe jejunal hypomotility in the fasting and fed state and absence of normal phase III in all nine pts and neuropathy-like duodenal alterations in eight of nine. Progress to overt CIP had occurred in six pts. Histopathologic re-evaluation (three pts) showed that criteria of visceral degenerative neuropathy were fulfilled in both families including intranuclear inclusions in all three pts. Genealogic exploration using the unique Swedish Register for Catechetical Meetings disclosed that the two families with all likelihood shared a male ancestor in the...Continue Reading


Aug 1, 1991·Digestive Diseases and Sciences·M CamilleriM D Schuffler
Dec 1, 1986·Gastroenterology·E A MayerM Mogard
Oct 1, 1980·Clinical Genetics·A D RoyG W Odling-Smee
Mar 1, 1995·Acta Physiologica Scandinavica·E S Björnsson, Hasse Abrahamsson
Sep 1, 1996·Scandinavian Journal of Gastroenterology·Per-Ove StotzerHasse Abrahamsson
Feb 6, 1999·The American Journal of Gastroenterology·E S Björnsson, Hasse Abrahamsson
Aug 8, 2002·Archives of Neurology·Raffaella ZannolliFabio Giannini
Mar 1, 2003·Scandinavian Journal of Gastroenterology·R SadikPer-Ove Stotzer
Jun 30, 2004·Scandinavian Journal of Gastroenterology·H StridE S Björnsson
Oct 27, 2004·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Roberto De Giorgio, M Camilleri
Aug 10, 2005·American Journal of Medical Genetics. Part a·E C RoperO W J Quarrell
Aug 22, 2006·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·S AnderssonHasse Abrahamsson
Mar 16, 2007·American Journal of Human Genetics·Annagiusi GargiuloAlberto Auricchio
May 10, 2007·European Journal of Human Genetics : EJHG·Alessia DeglincertiVincenzo Stanghellini
Jun 15, 2007·Neurogastroenterology and Motility : the Official Journal of the European Gastrointestinal Motility Society·Vincenzo StanghelliniRoberto Corinaldesi
May 22, 2008·World Journal of Gastroenterology : WJG·Alexandra AntonucciVincenzo Stanghellini
Jul 12, 2008·Scandinavian Journal of Gastroenterology·Peter Thelin SchmidtH Tornblom


Jul 16, 2014·Expert Review of Gastroenterology & Hepatology·Augusto LauroAntonio Daniele Pinna
Apr 25, 2013·Nutrition in Clinical Practice : Official Publication of the American Society for Parenteral and Enteral Nutrition·Scott L Gabbard, Brian E Lacy
Mar 24, 2018·Journal of Pediatric Gastroenterology and Nutrition·Nikhil ThaparCarlo Di Lorenzo

Related Concepts

Intestinal Diseases
Visceral Myopathy
Genealogical Tree
Degenerative Diseases, Spinal Cord
Deglutition Disorders

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