Duchenne muscular dystrophy: A cerebellar disorder?

被引:81
作者
Cyrulnik, Shana E. [1 ]
Hinton, Veronica J. [2 ]
机构
[1] CUNY, Grad Ctr, New York, NY 10016 USA
[2] Columbia Univ, Coll Phys & Surg, Gertrude H Sergievsky Ctr, Dept Neurol, New York, NY 10027 USA
关键词
Duchenne muscular dystrophy; dystrophin; development; dyslexia; cerebellum;
D O I
10.1016/j.neubiorev.2007.09.001
中图分类号
B84 [心理学]; C [社会科学总论]; Q98 [人类学];
学科分类号
03 ; 0303 ; 030303 ; 04 ; 0402 ;
摘要
Cyrulnik, S.C., and V.J. Hinton. Duchenne muscular dystrophy: A cerebellar disorder? NEUROSCI. BIOBEHAV. REV. Duchenne muscular dystrophy (DMD) is a genetic disorder that is often associated with cognitive deficits. These cognitive deficits have been linked to the absence of dystrophin, a protein product which is normally found in multiple tissues throughout the body. In the current paper, we argue that it is the absence of dystrophin in the cerebellum that is responsible for the cognitive deficits observed. We begin by reviewing data that document structural and functional abnormalities in the brains of individuals with DMD and mdx mice. We briefly review the cognitive deficits associated with DMD, and then present neuroimaging and neuropsychological evidence to indicate that the cerebellum is involved in the same aspects of cognition that are impaired in children with DMD. It is our contention that the development of brain pathways in the cerebellum (e.g., cerebro-cerebellar loops) without dystrophin may result in altered brain function presenting as cognitive deficits in DMD. (c) 2007 Elsevier Ltd. All rights reserved.
引用
收藏
页码:486 / 496
页数:11
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