Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
OBJECTIVE
This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients.


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.


CONCLUSIONS
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.
Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. ; Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Hyung Jun
HJ
Park
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Ha Young
HY
Shin
Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
Hoon-Chul
HC
Kang
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Byung-Ok
BO
Choi
Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Bum Chun
BC
Suh
Department of Neurology, Research Institute and Hospital of National Cancer Center, Goyang, Korea.
Ho Jin
HJ
Kim
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Young-Chul
YC
Choi
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Phil Hyu
PH
Lee
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Seung Min
SM
Kim
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D056910:Republic of Korea; D055815:Young Adult
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters
ABCD1; Adrenoleukodystrophy; adrenomyeloneuropathy; ataxia; very long chain fatty acid