Allgrove syndrome.

Allgrove syndrome is a rare autosomal recessive disorder. It is also known as the 3A syndrome and characterised by the triad of achalasia, alacrima and adrenal insufficiency. The AAAS gene is encoded on chromosome 12q13.

A 12 year old boy with recurrent episodes of pneumonia: triple A syndrome.

Triple A syndrome (Allgrove syndrome) is a rare inherited autosomal recessive disease with a typical triad including adrenocorticotrophic-hormone-resistant glucocorticoid insufficiency, reduced or absent tearing (alacrima) and achalasia and a wide range of symptoms can be detected due to multi organ involvement. This report describes the case of a Triple Asyndrome, a12 year-old boy with a history of recurrent episodes of pneumonia and growth retardation due to failure to timely diagnosis of his problem.

Triple A syndrome in a patient with genetic growth hormone insensitivity: phenotypic effects of two genetic disorders.

Background: Primary growth hormone insensitivity (GHI) and triple A syndrome are rare autosomal recessive disorders.

Case Report: The patient, a 12-year-old boy from consanguineous parents, was referred for short stature at the age of 7 years (height: -5.4 SD score).

Neurologic presentation of triple A syndrome.

"Triple A" syndrome is a rare, autosomal recessive condition whose main clinical features are alacrima, achalasia, and adrenal failure. Most patients also develop some neurologic abnormalities. We describe an 11-year-old boy with triple A syndrome who presented with progressive axonal motor neuropathy.

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction. Adrenal function is normal. Their phenotype is similar to the phenotype observed in autosomal recessive Triple A syndrome except for the presence of mental retardation in all affected individuals.

Neurological features in adult Triple-A (Allgrove) syndrome.

Triple-A or Allgrove syndrome is a rare multisystem disease classically associated with esophageal achalasia, adrenal insufficiency and alacrima. Here, we describe the poorly understood neurological characteristics often associated with this condition, through the clinical and electrophysiological analysis of eight patients. All patients were genetically confirmed and had a mutation in the ALADIN gene.

New ophthalmic features in a family with triple A syndrome.

We report three subjects of a Greek family affected by triple A syndrome (AAAS). All patients underwent complete ophthalmic examination, full-field electroretinogram (ERG), visual evoked responses (VER), optical coherence tomography (OCT) and molecular analysis of the AAA gene. All patients had alacrima.

Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients.

Background/aims: ALADIN gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients has been known to show alacrima (decreased secretion of tear). However, the genetic mechanism between achalasia and alacrima has not been defined yet.

Mutation spectra of the AAAS gene in Iranian families with Allgrove Syndrome.

Background And Aims: Allgrove (OMIM#231550) or Triple-A syndrome is a rare, autosomal recessive disorder characterized by the triad of familial adrenal insufficiency, achalasia, and alacrima. Approximately one-half of all patients with Triple-A syndrome have been shown to have mutations in the AAAS gene on chromosome 12q13, which results in loss or non-function of the encoded protein.

Methods: Five unrelated families clinically diagnosed with Allgrove Syndrome were evaluated for sequence variations in the AAAS gene.

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described.

Intracellular ROS level is increased in fibroblasts of triple A syndrome patients.

Triple A syndrome is named after the main symptoms of alacrima, achalasia, and adrenal insufficiency but also presents with a variety of neurological impairments. To investigate the causes of progressive neurodegeneration, we examined the oxidative status of fibroblast cultures derived from triple A syndrome patients in comparison to control cells. Patient cells showed a 2.

Adult or late-onset triple A syndrome: case report and literature review.

Triple A syndrome is caused by mutations in the gene encoding ALADIN, leading to achalasia, alacrima and addisonism. Neurologic manifestations of the disease include motor neuron disease-like presentations, motor-sensory or autonomic neuropathy, optic atrophy, cerebellar ataxia, Parkinsonism, and mild dementia. We report a 60-year-old Japanese man with triple A syndrome.

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.

A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected.

Triple A syndrome: 32 years experience of a single centre (1977-2008).

Triple A syndrome is an autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency, autonomic dysfunction, and neurodegeneration. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Over the period 1977-2008 we evaluated ten subjects with the clinical diagnosis of triple A syndrome.

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.

Purpose: To study the value of conjunctival biopsy in congenital tufting enteropathy diagnosis.

Design: Case-comparative study.

Methods: Between January 2000 and June 2007, all children seeking treatment with an early onset of intractable diarrhea were examined in the ophthalmology department of Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, France.

Two patients with an identical novel mutation in the AAAS gene and similar phenotype of triple A (Allgrove) syndrome.

Background: Triple A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder characterized by three cardinal symptoms: adrenal insufficiency due to ACTH insensitivity, achalasia and alacrima. Various progressive neurological abnormalities and skin changes have been described in association with the syndrome. The disease is caused by mutation in the AAAS gene on chromosome 12q13.

Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families.

Background: Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder.

Case(s) Presentation: We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them.

Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.

Allgrove syndrome (or triple A syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene, located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with significant central and peripheral nervous system involvement.

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

Triple A syndrome is a rare autosomal recessive disorder characterized by ACTH-resistant adrenal failure, alacrima, achalasia, and progressive neurological manifestations. The majority of cases are associated with mutations in the AAAS gene, which encodes a novel, 60-kDa WD-repeat nuclear pore protein, alacrima-achalasia-adrenal insufficiency neurological disorder (ALADIN) of unknown function. Our aim was to elucidate the functional role of ALADIN by determining its interacting protein partners using the bacterial two-hybrid (B2-H) technique.

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.

The nuclear pore complex (NPC) consists of approximately 30 different proteins and provides the only sites for macromolecular transport between cytoplasm and nucleus. ALADIN was discovered as a new member of the NPC. Mutations in ALADIN are known to cause triple A syndrome, a rare autosomal recessive disorder characterized by adrenal insufficiency, alacrima, and achalasia.

Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.

Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). Northern blot analysis shows that the 2.1 kb AAAS mRNA is expressed in various tissues with stronger expression in testis and pancreas.