The muscular dystrophies have been traditionally classified based mainly on clinical manifestation
and mode of inheritance. Owing to the discoveries of causative genes, new terminologies derived
from each gene, such as dystrophinopathy, α-dystroglycanopathy, sarcoglycanopathy and fukutinopathy,
have also become common. Mutations of each gene may cause several clinical phenotypes.
Some muscular dystrophies accompany central nervous system (CNS) lesions, especially in the
congenital muscular dystrophies. Cobblestone lissencephaly (type II lissencephaly) is a well-known
CNS malformation observed in severe forms of α-dystroglycanopathy. Moreover, CNS involvement
has been reported in other muscular dystrophies, such as Duchenne muscular dystrophy. In this review,
genes related to the muscular dystrophies associated with CNS lesions are briefly described along with the molecular
characteristics of each gene and the pathomechanism of the CNS lesions. Understanding of both the clinicopathological
characteristics of these CNS lesions and their molecular mechanisms is important for the diagnosis, care
of patients, and development of new therapeutic strategies.
Keywords: Causative genes, central nervous system lesions, clinicopathological characteristics, function, muscular dystrophy,
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