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Review
. 2020 Oct;36(10):2497-2509.
doi: 10.1007/s00381-020-04705-4. Epub 2020 Jun 9.

Neuroimaging in tuberous sclerosis complex

Camilla Russo  1   2 , Anna Nastro  1 , Domenico Cicala  1 , Maria De Liso  1 , Eugenio Maria Covelli  1 , Giuseppe Cinalli  3
Affiliations
Review

Neuroimaging in tuberous sclerosis complex

Camilla Russo et al. Childs Nerv Syst. 2020 Oct.

Abstract

Introduction: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.

Background: Neuroimaging is crucial for early diagnosis, monitoring, and management of these patients. While computed tomography is generally used as first-line investigation at emergency department, magnetic resonance imaging is the reference method to define central nervous system involvement and investigate subtle pathophysiological alterations in TSC patients.

Purpose: Here, we review the state-of-the-art knowledge in TSC brain imaging, describing conventional findings and depicting the role of advanced techniques in providing new insights on the disease, also offering an overview on future perspectives of neuroimaging applications for a better understanding of disease pathophysiology.

Keywords: Autism; Central nervous system; Epilepsy; Magnetic resonance imaging; Sub-ependymal giant cell astrocytoma; Tuberous sclerosis complex.

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References

    1. Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA (2016) Tuberous sclerosis complex. Nat Rev Dis Prim 2(May):e1–e18
    1. Ebrahimi-fakhari D, Mann LL, Poryo M, Graf N, Von Kries R, Heinrich B et al (2019) Correction to: incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study. Orphanet J Rare Dis 14(106):106 - PubMed - PMC
    1. Sancak O, Nellist M, Goedbloed M, Elfferich P, Wouters C, Maat-kievit A et al (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 13:731–741 - PubMed
    1. Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ (2010) Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet 127(5):573–582 - PubMed - PMC
    1. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR et al (2015) Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoS Genet 5(Nov):e1–e17

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