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Neurobiology

Full circle to cobbled brain

Nature volume 418, pages 376–377 (2002)Cite this article

A biochemical link between certain congenital muscular dystrophies and the associated brain malformation known as cobblestone lissencephaly has been elusive. But it looks as if that link has been found.

Muscular dystrophies are genetic diseases that cause progressive muscle weakness. The best known is that described by Duchenne, which affects boys and is evident from about five years of age, and which results from mutations in the gene encoding a protein called dystrophin. Another subclass is the congenital muscular dystrophies, where muscle weakness is apparent at birth or shortly afterwards. Two of these for which gene mutations have been found are muscle–eye–brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD). Children carrying the faulty MEB or FCMD genes1,2 suffer from both muscle weakness and 'cobblestone lissencephaly', in which a flaw in neuronal migration results in a brain with a bumpy, cobblestone appearance and loss of the normal folding pattern.

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Figure 1: Congenital muscular dystrophy and α-dystroglycan3.
Figure 2: Cobblestone lissencephaly and α-dystroglycan4.

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  1. Laboratory of Neurogenetics and Development, Weill Medical College of Cornell University, 525 East 68th Street, W605, New York, 10021, New York, USA

    M. Elizabeth Ross

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  1. M. Elizabeth Ross
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Correspondence to M. Elizabeth Ross.

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Ross, M. Full circle to cobbled brain. Nature 418, 376–377 (2002). https://doi.org/10.1038/418376a

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