Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

ABSTRACT:

Purpose

This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients.

Materials and methods

We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids.

Results

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

SUBMITTER: Park HJ 

PROVIDER: S-EPMC3990087 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature