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Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy

 Hyung Jun Park  ;  Ha Young Shin  ;  Hoon-Chul Kang  ;  Byung-Ok Choi  ;  Bum Chun Suh  ;  Ho Jin Kim  ;  Young-Chul Choi  ;  Phil Hyu Lee  ;  Seung Min Kim 
 YONSEI MEDICAL JOURNAL, Vol.55(3) : 676-682, 2014 
Journal Title
Issue Date
ATP Binding Cassette Transporter, Sub-Family D, Member 1 ; ATP-Binding Cassette Transporters/genetics ; Adolescent ; Adrenoleukodystrophy/diagnosis* ; Adrenoleukodystrophy/genetics* ; Adult ; Brain/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Republic of Korea ; Young Adult
ABCD1 ; Adrenoleukodystrophy ; adrenomyeloneuropathy ; ataxia ; very long chain fatty acid
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 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.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Park, Hyung Jun(박형준)
Suh, Bum Chun(서범천)
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Lee, Phil Hyu(이필휴) ORCID logo https://orcid.org/0000-0001-9931-8462
Choi, Byung Ok(최병옥)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
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