The muscular dystrophies associated with central nervous system lesions: a brief review from a standpoint of the localization and function of causative genes.
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.
Tomoko
T
Yamamoto
Atsuko
A
Hiroi
Makiko
M
Osawa
Department of Pathology, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo 162-8666, Japan. sheto@research.twmu.ac.jp.
Noriyuki
N
Shibata
D002493:Central Nervous System Diseases / Q000150:complications* / Q000378:metabolism; D002648:Child; D016189:Dystrophin / Q000235:genetics; D006031:Glycosylation; D006801:Humans; D054082:Lissencephaly / Q000150:complications / Q000235:genetics / Q000378:metabolism; D009136:Muscular Dystrophies / Q000150:complications* / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000235:genetics; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010641:Phenotype
D016189:Dystrophin; D009687:Nuclear Proteins; C117674:LARGE1 protein, human; D017351:N-Acetylglucosaminyltransferases