PHENOTYPIC HETEROGENEITY OF AN ADULT FORM OF ADRENOLEUKODYSTROPHY IN MONOZYGOTIC TWINS

被引：47

作者：

SOBUE, G

UENONATSUKARI, I

OKAMOTO, H

CONNELL, TA

AIZAWA, I

MIZOGUCHI, K

HONMA, M

ISHIKAWA, G

MITSUMA, T

NATSUKARI, N

机构：

[1] AICHI MED UNIV, DEPT INTERNAL MED 4, DIV ENDOCRINOL, AICHI 158, JAPAN

[2] AICHI MED UNIV, DIV NEUROL, AICHI, JAPAN

[3] HAMAMATSU UNIV SCH MED, DEPT PSYCHIAT, HAMAMATSU, SHIZUOKA 19129, JAPAN

[4] HAMAMATSU UNIV SCH MED, DEPT INTERNAL MED 1, HAMAMATSU, SHIZUOKA 19129, JAPAN

[5] NATL INST HYG SCI, DIV GENET & MUTAGENESIS, SETAGAYA KU, TOKYO, JAPAN

[6] KAGAWA MED SCH, DEPT PSYCHOL MED, KAGAWA, JAPAN

[7] MED COLL PENN, EASTERN PENN PSYCHIAT INST, DEPT PHARMACOL, PHILADELPHIA, PA USA

[8] MED COLL PENN, EASTERN PENN PSYCHIAT INST, DEPT PSYCHIAT, PHILADELPHIA, PA USA

来源：

ANNALS OF NEUROLOGY | 1994年 / 36卷 / 06期

关键词：

D O I：

10.1002/ana.410360617

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe genetically proven monozygotic twins with the adult form of adrenoleukodystrophy with significant phenotypic heterogeneity. Myeloneuropathy was common to both patients, but cognitive impairment and affective symptoms with extensive demyelination in the brain were prominent in the older twin, while adrenal insufficiency was predominant in the younger twin. The younger twin, however, exhibited affective symptoms similar to those displayed by his elder twin 10 years later. These findings suggest that nongenetic factors are important in determining the phenotypic variation of adrenoleukodystrophy gene.

引用

页码：912 / 915

页数：4

共 12 条

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AUBOURG P, 1990, NEW ENGL J MED, V322, P860

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