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An update on the central nervous system manifestations of tuberous sclerosis complex

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Abstract

The autosomal dominant disorder tuberous sclerosis complex (TSC) is characterized by an array of manifestations both within and outside of the central nervous system (CNS), including hamartomas and other malformations. TSC is caused by mutations in the TSC1 or TSC2 gene resulting in activation of the mechanistic target of rapamycin (mTOR) signaling pathway. Study of TSC has shed light on the critical role of the mTOR pathway in neurodevelopment. This update reviews the genetic basis of TSC, its cardinal phenotypic CNS features, and recent developments in the field of TSC and other mTOR-altered disorders.

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Fig. 1
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Gross photographs (a, b) courtesy of Dr. Jeffrey Golden

Fig. 3
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Image (a) courtesy of Dr. Alexander R. Judkins

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Image courtesy of Dr. Jianling Ji

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Acknowledgements

The author would like to thank Dr. Jaclyn Biegel, Dr. Jianling Ji, Dr. Tena Rosser, and Dr. Benita Tamrazi for their helpful comments on the manuscript.

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  1. Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USA

    Jennifer A. Cotter

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Cotter, J.A. An update on the central nervous system manifestations of tuberous sclerosis complex. Acta Neuropathol 139, 613–624 (2020). https://doi.org/10.1007/s00401-019-02003-1

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