Triple A syndrome in Japan.
Muscle Nerve
; 48(3): 381-6, 2013 Sep.
Article
em En
| MEDLINE
| ID: mdl-23861206
ABSTRACT
INTRODUCTION:
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.METHODS:
We conducted the first nationwide survey of triple A syndrome. Identified mutants were expressed as GFP-fusion proteins in cultured cells.RESULTS:
Two new patients were identified, and 1 had a novel mutation (p.Ser182fsX19). All mutant proteins tested were mislocalized from NPC to cytoplasm.CONCLUSIONS:
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Acalasia Esofágica
/
Insuficiência Adrenal
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article