Abstract:
: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.
journal_name
Neurosci Biobehav Revjournal_title
Neuroscience and biobehavioral reviewsauthors
Cyrulnik SE,Hinton VJdoi
10.1016/j.neubiorev.2007.09.001subject
Has Abstractpub_date
2008-01-01 00:00:00pages
486-96issue
3eissn
0149-7634issn
1873-7528pii
S0149-7634(07)00111-Xjournal_volume
32pub_type
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