CEREBRAL INVOLVEMENT IN MCLEOD SYNDROME

被引:43
作者
DANEK, A
UTTNER, I
VOGL, T
TATSCH, K
WITT, TN
机构
[1] LUDWIG MAXIMILIANS UNIV MUNCHEN,NEUROL KLIN,MUNICH,GERMANY
[2] LUDWIG MAXIMILIANS UNIV MUNCHEN,RADIOL KLIN,MUNICH,GERMANY
关键词
D O I
10.1212/WNL.44.1.117
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
McLeod syndrome is an Xp21-linked Kell blood group variant due to lack of erythrocyte protein Kx with associated RBC membrane dysfunction such as acanthocytosis. A man with this syndrome developed chorea and slight neuropsychological impairment. He had caudate atrophy on cerebral imaging and reduced striatal dopamine D-2-receptor binding on single-photon emission computed tomography. Since Xp21 was partly deleted in the patient, the missing gene product (possibly Kx) may be essential for the integrity of the striatum.
引用
收藏
页码:117 / 120
页数:4
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