Familial occurrence of adrenocortical insufficiency in two brothers with allgrove syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAs gene mutation

Neuroendocrinology Letters

Volumn 26, Issue 5, 2005, Pages 499-502

  Kurča, Egon ^a   Grofik, M ^a   Kučera, Pavol ^b   Varsik, Pavel ^b  

^a University Hospital in Martin   (Slovakia)

^b Bratislava   (Slovakia)

Author keywords

3A syndrome; 4A syndrome; Adrenocortical insufficiency; Allgrove syndrome; Autonomic neuropathy; Epilepsy; Peripheral neurophathy

Indexed keywords

ADRENAL CORTEX INSUFFICIENCY; ADULT; ALLGROVE SYNDROME; ARTICLE; AUTONOMIC NEUROPATHY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILDHOOD DISEASE; CHROMOSOME 12; CLINICAL FEATURE; COMORBIDITY; DISEASE ASSOCIATION; EPILEPSY; ESOPHAGUS ACHALASIA; FAMILIAL DISEASE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MORTALITY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; RARE DISEASE;

EID: 29544434967     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Allgrove J, Clayden GS, Grant DB et al. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978; 1:1284-6.
2. Gazarian M, Conwell CT, Bonney M et al. The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 1995; 154:18-23.
3. Weber A, Wienker TF, Jung M et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet 1996, 5:2061-6.
4. Tullio-Pelet A, Salomon R, Hadj-Rabia S et al. Mutant WD-repeat protein in triple-A syndrome. Nature Genet 2000; 26:332-5.
5. Handchug K, Sperling S, Zoon SJ et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene, Hum Mol Genet 2001; 10:283-90.
6. Ibrahim SH, Vajsar J, Jay V. Myopathy with Allgrove syndrome. J Pak Med Assoc 2003; 53:619-21.
7. Zeharia A, Shuper A, Mimouni M et al. Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima and neurologic abnormalities (Allgrove syndrome). J Child Neurol 1999; 14:331-4.
8. Roubergue A, Apartis E, Vidailhet M et al. Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation. Mov Disord 2004; 3:344-6.
9. Bentes C, Santos-Bento M, SS J et al. Allgrove syndrome in adulthood. Muscle Nerve 2001; 24:192-196.
10. Goizet C, Catargi B, Tison F et al. Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation. Neurology 2002; 58:962-965.
11. Houlden H, Smith S, Carvalho M et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain 2002; 125:2681-2690.
12. Kimber J, McLean BN, Prevett M et al. Allgrove or 4 "A" syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry 2003; 74:654-657.