Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

[adrenomyeloneuropathy]

This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN ) patients .We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids .All 12 patients were men . Patient ages at symptom onset ranged from 18 to 55 years . Family history was positive in two patients . The phenotype distributions consisted of AMN without cerebral involvement in seven patients , AMN with cerebral involvement in two patients , and the spinocerebellar phenotype in three patients . Nerve conduction studies revealed abnormalities in four patients and visual evoked tests revealed abnormalities in three patients . Somatosensory evoked potential tests revealed central conduction defects in all of the tested patients . Spinal MRI showed diffuse cord atrophy or subtle signal changes in all 12 patients . Brain MRI findings were abnormal in six of the nine tested patients . These brain abnormalities reflected the clinical phenotypes . Mutational analysis identified nine different ABCD 1 mutations in 10 of 11 tested patients . Among them , nine have been previously reported and shown to be associated with various phenotypes ; one was a novel mutation .In conclusion , the present study is the first to report on the clinical and mutational spectrum of Korean AMN patients , and confirms various clinical presentations and the usefulness of brain MRI scan .

Diseases
Validation

Diseases presenting "subtle signal changes in all 12 patients" symptom

adrenomyeloneuropathy

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