Duchenne muscular dystrophy: a cerebellar disorder?
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.
Cyrulnik
Shana E
SE
The Graduate Center of the City University of New York, New York, NY 10016, USA. shanacyrulnik@pobox.com
Hinton
Veronica J
VJ
D000818:Animals; D002526:Cerebellar Diseases / Q000150:complications / Q000378:metabolism / Q000473:pathology; D002531:Cerebellum / Q000378:metabolism* / Q000473:pathology; D002648:Child; D003072:Cognition Disorders / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D016189:Dystrophin / Q000172:deficiency / Q000378:metabolism*; D006801:Humans; D008570:Memory, Short-Term / Q000502:physiology; D051379:Mice; D018101:Mice, Inbred mdx; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D009434:Neural Pathways / Q000378:metabolism / Q000473:pathology; D011932:Reading
D016189:Dystrophin