LCC and Coats plus

We want to understand the cause of the rare brain diseases leukoencephalopathy with calcifications and cysts (LCC; also sometimes referred to as Labrune syndrome), and Coats plus (CP).

The name LCC comes from the changes that doctors see when they look at the brain scans of affected patients - white matter damage ('leukoencephalopathy'), calcium (in a particular pattern), and cysts (‘holes’ in the brain white matter). Because LCC is rare and poorly-recognised, and because no diagnostic blood test was previously available, affected individuals sometimes have a piece of the brain taken out to look at under a microscope. Studies of these samples taken from patients suggests that the problem causing LCC involves the brain blood vessels. 

Although highly stereotyped, the neuroimaging features of LCC are not unique to that disorder, but are also observed in the multisystem disease CP. We previously identified the genetic basis of CP (Nat Genet 2012;44(3):338-42) and LCC (Nat Genet. 2016;48(10):1185-92). Despite the fact that they are genetically distinct, the remarkable neuro-radiological overlap indicates the possibility of shared underlying disease mechanisms, a possibility that we are actively pursuing.

We have developed a special zebrafish with the same genetic problem as patients with LCC. Of importance, our work shows that this ‘animal model’ can be used to study how LCC happens in humans. We want to do more experiments using this model, including trying to identify urgently needed ‘smart medicines’.

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