Triple A syndrome in Japan.

[triple a syndrome]

Triple A syndrome is an autosomal recessive disease , characterized by esophageal achalasia , alacrima , and adrenal insufficiency , as well as involvement of the central , peripheral , and autonomic nervous systems . This disease mimics amyotrophic lateral sclerosis in some patients . The causative gene encodes ALADIN , a nuclear pore complex (NPC ) component . Only 5 patients have been reported in Japan .We conducted the first nationwide survey of triple A syndrome . Identified mutants were expressed as GFP-fusion proteins in cultured cells .T wo new patients were identified , and 1 had a novel mutation (p .Ser 182 fsX 19 ). All mutant proteins tested were mislocalized from NPC to cytoplasm .The most consistent neurological manifestation of triple A syndrome in Japanese patients was progressive bulbospinal muscular atrophy with both upper and lower motor neuron involvement , which mimicked motor neuron disease , similar to that seen in patients in Western countries . The identification of the new patients suggests that more cases are undiagnosed in Japan .

Diseases
Validation

Diseases presenting "esophageal achalasia" symptom

hirschsprung disease

triple a syndrome

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