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Review
. 2017 Jun 9:6:F1000 Faculty Rev-859.
doi: 10.12688/f1000research.11110.1. eCollection 2017.

New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND)

Tanjala T Gipson  1 , Michael V Johnston  2
Affiliations
Review

New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND)

Tanjala T Gipson et al. F1000Res. .

Abstract

Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collectively referred to as TSC-associated neuropsychiatric disorders (TAND). More than 90% of children with TSC have epilepsy, including infantile spasms, and early onset of seizures, especially infantile spasms, is associated with greater impairment in intellectual development compared with individuals with TSC without seizures. Development of the mTOR inhibitors everolimus and sirolimus has led to considerable progress in the treatment of renal angiomyolipomata, pulmonary lymphangioleiomyomatosis, and subependymal giant cell astrocytomas in the brain. However, similar therapeutic progress is needed in the treatment of TAND.

Keywords: TSC1; TSC2; neuropsychiatric disorder; tuberous sclerosis complex.

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Conflict of interest statement

Competing interests: The authors declare that they have no competing interests.Competing interests: Mustafa Sahin has received research funding from Roche, Novartis, Pfizer and LAM Therapeutics. He has also served as a consultant for Roche and has been on the Scientific Advisory Board for SAGE Therapeutics.No competing interests were disclosed.No competing interests were disclosed.

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