A familial neuronal disease presenting as intestinal pseudoobstruction

Schuffler, Michael D.; Bird, Thomas D.; Sumi, S. M.; Cook, A.E.

doi:10.1016/0016-5085(78)90476-6

Cited by 187 publications

(79 citation statements)

References 53 publications

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“…The clinical presentation is variable and includes achalasia, gastroesophageal reflux, intestinal dysmotility and pseudoobstruction, dysarthria, peripheral neuropathy, and pupillary defects. Eight families with FVN have been reported in the literature (Barnett et al 1992;Camilleri et al 1991;Faber et al 1987;Mayer et al 1986;Roper et al 2005;Roy et al 1980;Schuffler et al 1978;Zannolli et al 2002). In four of these families intranuclear inclusions in the neurons of the ENS have been reported, and this may represent a subform of the disorder (Roper et al 2005).…”

Section: Familial Visceral Neuropathymentioning

confidence: 99%

“…In four of these families intranuclear inclusions in the neurons of the ENS have been reported, and this may represent a subform of the disorder (Roper et al 2005). Achalasia was present in three of these four families (Barnett et al 1992;Roper et al 2005;Schuffler et al 1978). An autosomal dominant mode of transmission was observed in two of the FVN-achalasia families (Barnett et al 1992;Roper et al 2005), whereas familial occurrence was suggestive of autosomal recessive inheritance in the third (Schuffler et al 1978).…”

Section: Familial Visceral Neuropathymentioning

confidence: 99%

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Achalasia: will genetic studies provide insights?

et al. 2010

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Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The candidate gene approach has revealed some promising results; however, it has not established conclusive links to specific genes so far. The aim of this review was to summarize current knowledge of the genetics of achalasia. We also discuss the extent to which our understanding of achalasia is likely to be enhanced through future molecular genetic research.

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Section: Familial Visceral Neuropathymentioning

confidence: 99%

Section: Familial Visceral Neuropathymentioning

confidence: 99%

Achalasia: will genetic studies provide insights?

et al. 2010

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“…Schuffler et al [54] found 27.8 nerve cells per 100 mm smooth muscle. Ikeda et al [56] described more than 30 nerve cells per 10 mm smooth muscle as normal, whereas Smith estimated seven nerve cells per mm smooth muscle [55].…”

Section: Neuron Density In the Ensmentioning

confidence: 98%

“…Different reports of normal neuron density employed conventional sections of the human myenteric plexus and resulted in a huge variation of more than 200-fold [54][55][56][57]. Schuffler et al [54] found 27.8 nerve cells per 100 mm smooth muscle.…”

Section: Neuron Density In the Ensmentioning

confidence: 99%

Enteric nervous system and developmental abnormalities in childhood

2006

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ENS consists of a complex network of neurons, organised in several plexuses, which interact by means of numerous neurotransmitters. It is capable of modulating the intestinal motility, exocrine and endocrine secretions, microcirculation and immune and inflammatory responses within the gastrointestinal tract, independent of the central nervous system. Though the embryological development of various plexuses are completed by mid-way of gestation, the maturation of neurons and nerve plexuses appear to continue well after birth. Therefore, any histological or functional abnormalities related to the gastrointestinal function must be investigated with the ongoing maturational processes in mind.

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“…In the familial type, at least two forms of abnormalities have been recognized: hereditary hollow visceral myopathy 1-3 and hereditary visceral neuropathies. [4][5][6] Secondary CIPO includes disorders in which intestinal smooth muscle dysfunction occurs as a consequence of the administration of certain drugs or is due to recognized underlying diseases of the nervous system and endocrine glands, such as hypothyroidism, metabolic disorders, diverticulosis of the intestine, intraabdominal inflammation, and collagen vascular diseases, 7 such as progressive systemic sclerosis (PSS), 8,9 dermatomyositis, 10,11 systemic lupus erythematosus (SLE), 12,13 and Sjögren's syndrome. 14 To the best of our knowledge, there has been no report of a case of CIPO in a patient with rheumatoid arthritis (RA).…”

mentioning

confidence: 98%

Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features

Miyata

Watanabe

Suzuki

et al. 2002

Journal of Gastroenterology

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We report the first case of a chronic intestinal pseudoobstruction (CIPO) in a patient with rheumatoid arthritis (RA) in whom a stoma was constructed at the sigmoid colon to decompress intracolonic pressure. The treatment improved quality of life in this patient, suggesting that surgical resection of the colon to decompress intracolonic pressure would be one of the options for the treatment of intractable CIPO. The resected specimen obtained from the sigmoid colon was found to be palisaded, with nuclei crowded in some areas of the inner circular muscle layer and thickened, with zonal or focal myxoid regions with interstitial fibrosis, composed of collagenous and elastic fibers, in the outer longitudinal muscle layer. Some of the smooth muscle cells in the outer longitudinal muscle layer showed mild degeneration with cytoplasmic vacuolar changes, but no inflammatory changes. However, further studies are required to determine whether these histopathological changes are unique to RA.

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A familial neuronal disease presenting as intestinal pseudoobstruction

Cited by 187 publications

References 53 publications

Achalasia: will genetic studies provide insights?

Achalasia: will genetic studies provide insights?

Enteric nervous system and developmental abnormalities in childhood

Chronic intestinal pseudoobstruction ileus in a patient with rheumatoid arthritis: outcome of a stoma construction and its histopathological features

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