Allgrove syndrome: Documenting cholinergic dysfunction by autonomic tests

Chu, Mon Li; Berlin, Dena; Axelrod, Felicia B.

doi:10.1016/s0022-3476(96)70205-6

Cited by 31 publications

(17 citation statements)

References 12 publications

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“…The peripheral nervous system may also be affected. Electrophysiological investigation including nerve conduction studies and electromyography reveal slow conduction velocities of motor and sensory nerves consistent with mixed sensorimotor polyneuropathy with predominant axonal involvement with fibrillation potentials, motor unit drop-out, and enlarged motor unit potentials (48,49,52,61,75,(77)(78)(79). Electrophysiological investigation including nerve conduction studies and electromyography reveal slow conduction velocities of motor and sensory nerves consistent with mixed sensorimotor polyneuropathy with predominant axonal involvement with fibrillation potentials, motor unit drop-out, and enlarged motor unit potentials (48,49,52,61,75,(77)(78)(79).…”

Section: Associated Featuresmentioning

confidence: 90%

Adrenocorticotropin Insensitivity Syndromes

1998

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Section: Associated Featuresmentioning

confidence: 90%

Adrenocorticotropin Insensitivity Syndromes

1998

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“…However, because it is now appreciated that autonomic dysfunction is also a feature, the term "4-A syndrome" has been considered more appropriate. 40,41 All components are not present in every patient, and age at onset is variable. The syndrome can present in the first decade of life with severe hypoglycemic episodes, which can cause seizures or death, or dysphagia secondary to achalasia and decreased oral secretions.…”

Section: Allgrove Syndromementioning

confidence: 99%

“…42,43 Many patients have progressive neurologic findings that consist of sensorimotor degeneration, optic neuropathy, and cerebellar features, as well as predominant abnormalities in the parasympathetic ANS. 40,41 The autonomic ocular findings include alacrima, keratoconjunctivitis sicca, lacrimal gland atrophy, pupillary abnormalities with hypersensitivity to dilute pilocarpine, and inappropriate accommodation. [43][44][45] Autonomic dysfunction also results in orthostatic hypotension with preservation of compensatory tachycardia and affects secretions so that sweating and oral secretions are diminished and males suffer sexual impotence.…”

Section: Allgrove Syndromementioning

confidence: 99%

Pediatric Autonomic Disorders

2006

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The scope of pediatric autonomic disorders is not well recognized. The goal of this review is to increase awareness of the expanding spectrum of pediatric autonomic disorders by providing an overview of the autonomic nervous system, including the roles of its various components and its pervasive influence, as well as its intimate relationship with sensory function. To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood.www.pediatrics.org/cgi

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“…[1][2][3][4] Whilst triple A syndrome is usually expressed during the first decade of life with severe hypoglycemic episodes, late onset with progressive neurological symptoms such as autonomic and peripheral neuropathies, dementia, and cerebellar ataxia has been reported. [5][6][7] Both the progressive neurologic features and the parasympathic innervation of most involved organs suggested mutation of a gene encoding either a neuromodulator or a neurotrophic factor.…”

Section: Introductionmentioning

confidence: 99%

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

et al. 2000

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Triple A syndrome (Allgrove syndrome, MIM No. 231550) is a rare autosomal recessive disorder characterised by ACTH-resistant adrenal insufficiency, achalasia of the cardia, and alacrimia. The triple A gene has been previously mapped to chromosome 12q13 in a maximum interval of 6 cM between loci D12S1629 and D12S312. Using linkage analysis in 12 triple A families, mostly originating from North Africa, we confirm that the disease locus maps to the 12q13 region (Z max = 10.89 at Θ = 0 for D12S1604) and suggest that triple A is a genetically homogeneous disorder. Recombination events as well as homozygosity for polymorphic markers enabled us to reduce the genetic interval to a 3.9 cM region. Moreover, total linkage disequilibrium was found at the D12S1604 locus between a rare allele and the mutant chromosomes in North African patients. Analysis of markers at five contiguous loci showed that most of the triple A chromosomes are derived from a single founder chromosome. As all markers are located in a 0 cM genetic interval and only allele 5 at the D12S1604 locus was conserved in mutant chromosomes, we speculate that the triple A mutation is due to an ancient Arabian founder effect that occurred before migration to North Africa. Since we also found linkage disequilibrium at D12S1604 in two patients from Southern Europe (France and Spain), the founder effect might well extend to other Mediterranean countries. Taking advantage of a YAC contig encompassing the triple A minimal physical region, the triple A gene was mapped to a 1.7 Mb DNA fragment accessible to gene cloning. European Journal of Human Genetics (2000) 8, 613-620.

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Allgrove syndrome: Documenting cholinergic dysfunction by autonomic tests

Cited by 31 publications

References 12 publications

Adrenocorticotropin Insensitivity Syndromes

Adrenocorticotropin Insensitivity Syndromes

Pediatric Autonomic Disorders

Linkage disequilibrium in inbred North African families allows fine genetic and physical mapping of triple A syndrome

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