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Adult or late-onset triple A syndrome
- Source :
- Journal of the Neurological Sciences. 297:85-88
- Publication Year :
- 2010
- Publisher :
- Elsevier BV, 2010.
-
Abstract
- 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. He was born to non-consanguineous parents. He underwent a surgical operation for achalasia at age 40, and thereafter, he developed a slowly progressive gait disturbance. Neurological examinations at age 60 revealed limb muscle wasting and weakness with pyramidal tract signs, distal-dominant sensory disturbance, optic atrophy, and autonomic dysfunction. Alacrima was detected using Schirmer test. All of these features were consistent with typical triple A syndrome. He lacked adrenal insufficiency that is frequently observed in patients with the classic phenotype of triple A syndrome. His sural nerve biopsy showed a moderate loss of myelinated fibers and hypomyelination. He was homozygous for a missense mutation, p.R155H, in the disease-causing gene, AAAS. Seven patients with genetically-confirmed, adult or late-onset triple A syndrome, including ours, have been reported to date. All the patients showed upper and lower motor neuron signs (100%), while sensory disturbance (29%) and autonomic dysfunction (57%) were less frequent. Careful assessment for alacrima followed by molecular genetic analysis of AAAS should be considered in patients who show a combined phenotype of motor neuron disease and sensory/autonomic disturbance, even in elderly patients.
- Subjects :
- medicine.medical_specialty
Pathology
Allgrove Syndrome
Cerebellar ataxia
business.industry
Parkinsonism
Triple-A syndrome
medicine.disease
Alacrima
Gastroenterology
Central nervous system disease
Atrophy
Neurology
Internal medicine
medicine
Adrenal insufficiency
Neurology (clinical)
medicine.symptom
business
Subjects
Details
- ISSN :
- 0022510X
- Volume :
- 297
- Database :
- OpenAIRE
- Journal :
- Journal of the Neurological Sciences
- Accession number :
- edsair.doi...........199f3050df20b3fb7720c8d680ac3428