Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders

Dumić, Miroslav; Radica, Ana; Sabol, Zlatko; Plavšić, Vesna; Brkljačić, Lj; Sarnavka, Vladimir; Vukovic, J.

doi:10.1007/bf01958757

Cited by 25 publications

(20 citation statements)

References 12 publications

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“…13 The neurological abnormalities may relate to the effects of glucocorticoid deficiency on the postnatal development of the autonomic and somatic peripheral nervous system. 2,11 Alternatively, it is conceivable that the autonomic dysfunction is the primary abnormality and leads to adrenal failure. 3 Based on the present case, the possibility of Allgrove syndrome must be borne in mind even when adult patients are evaluated.…”

Section: Discussionmentioning

confidence: 99%

“…Allgrove syndrome has been established as an autosomal recessive, multisystem disorder presenting in childhood, which in some cases also involves the peripheral motor and sensory fibers, pyramidal tract, motor coordination systems, optic nerve, speech, basal ganglia, cognitive function, skin, and osseous development. 2,3,5,6,11 Recently, conclusive evidence for linkage of the Allgrove syndrome locus to markers on chromosome 12q13 was reported. 12 We report an adult patient with achalasia who later developed progressive spastic tetraparesis with no sensory impairment, distal atrophy, dysarthria, and dysphagia.…”

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confidence: 99%

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Allgrove syndrome in adulthood

et al. 2001

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Allgrove syndrome in adulthood

et al. 2001

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“…Using genetic linkage analysis, the triple A gene named AAAS on chromosome 12q13 was identified. The AAAS gene encodes for a ubiquitous protein denominated ‘ALADIN’ [9]. ALADIN contains four WD repeats that are able to form typical β-propeller structure.…”

Section: Discussionmentioning

confidence: 99%

“…Since its first description in 1978 [1], more than 100 cases have been reported. In addition to the three main features, many patients show a variety of neurological and dermatological symptoms [2,3,4,5,6,7,8,9,10]. This disorder has recently been linked to AAAS gene ( A chalasia – A drenal insufficiency – A lacrima – S yndrome gene) located at chromosome 12q13.…”

Section: Introductionmentioning

confidence: 99%

A Novel <i>AAAS</i> Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

Dušek

Koršić²,

Koehler³

et al. 2006

Horm Res Paediatr

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Objective: The clinical and molecular data of a patient with triple A syndrome are reported. Patient: A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack of adrenal crisis. At the age of 4 years, achalasia and alacrima were diagnosed. Puberty started at the age of 17 years. At the same time, symptoms of central, peripheral, and autonomic nervous system dysfunction were noted. Later on, at the age of 20 years, a bone age delay of 6 years and severe osteoporosis was diagnosed. Results: A compound heterozygous AAAS mutation consisting of two mutations was found: a C > T transition in exon 7 resulting in a change of arginine at amino acid position 194 into a stop codon (Arg194X) at one allele, and a C > T transition in exon 12 resulting in a change of glutamine at amino acid position 387 into a stop codon (Gln387X) on the other allele. Conclusion: The mutation in exon 7 (p.R194X) of the AAAS gene is a novel mutation which has not been found in any other family so far, whereas the second was already found in some other families. This case adds to the clinical and molecular spectrum of triple A syndrome and may provide a new insight into the functions of AAAS gene.

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“…It is interesting that xerostomia (dry mouth) was never noticed and even the secretion of saliva was not investigated in any of them. In all ®ve of our previously reported patients with triple A syndrome [2] we con®rmed severe reduction in saliva secretion which resulted in xerostomia in all of them.…”

Section: Introductionmentioning

confidence: 98%

Xerostomia in patients with triple A syndrome – a newly recognised finding

et al. 2000

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Triple A syndrome is characterised by achalasia, alacrima, adrenal insufficiency and progressive neurological abnormalities including impaired autonomic nervous function. We present five patients with triple A syndrome in whom we describe xerostomia for the first time, a symptom which was presumed to be practically exclusive to Sjøgren syndrome and familial dysautonomia. Conclusion We recommend the investigation of salivation in all patients with triple A syndrome and treatment of xerostomia in order to ease swallowing. Further, our results corroborate earlier doubts that some patients with Sjøgren syndrome, especially those with the so-called "achalasia sicca" syndrome and adrenocortical insufficiency, actually had triple A syndrome. Therefore, adrenocortical function should be assessed in all patients with Sjøgren syndrome, particularly in those with difficulties in swallowing, because even latent adrenocortical insufficiency could be life-threatening for these patients in stressful situations.

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Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders

Cited by 25 publications

References 12 publications

Allgrove syndrome in adulthood

Allgrove syndrome in adulthood

A Novel <i>AAAS</i> Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

Xerostomia in patients with triple A syndrome – a newly recognised finding

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