Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
Yonsei Medical Journal
;
: 676-682, 2014.
Article
in English
| WPRIM
| ID: wpr-58590
ABSTRACT
PURPOSE:
This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients. MATERIALS ANDMETHODS:
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 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 ABCD1 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.CONCLUSION:
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain
/
Magnetic Resonance Imaging
/
ATP-Binding Cassette Transporters
/
Adrenoleukodystrophy
/
Republic of Korea
Type of study:
Prognostic study
Limits:
Adolescent
/
Adult
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Yonsei Medical Journal
Year:
2014
Type:
Article
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