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Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex
Author(s) -
Toldo Irene,
Bugin Samuela,
Perissinotto Egle,
Pelizza Maria Federica,
Vignoli Aglaia,
Parazzini Cecilia,
Canevini Maria Paola,
Nosadini Margherita,
Sartori Stefano,
Manara Renzo
Publication year - 2019
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.14313
Subject(s) - tuberous sclerosis , tsc1 , tsc2 , magnetic resonance imaging , medicine , pathology , cerebellum , phenotype , population , biomarker , cohort , oncology , radiology , biology , genetics , apoptosis , environmental health , pi3k/akt/mtor pathway , gene
Aim To improve the genetic, clinical, and neuroradiological characterization of cerebellar involvement in tuberous sclerosis complex ( TSC ) and determine whether cerebellar lesions could be a reliable biomarker of neurological impairment. Method This retrospective cohort study, held at two tertiary paediatric university centres, was conducted on patients with a confirmed diagnosis of TSC who underwent brain magnetic resonance imaging between October 2009 and May 2016. The study population consisted of 112 patients with TSC (median age 10y; range 5mo–38y; 61 females, 51 males). Results The results from multivariable statistical analysis indicated that cerebellar involvement (34 out of 112 patients, none carrying a TSC 1 mutation) was the most powerful predictor of supratentorial cortical tuber load; however, cerebellar involvement was not the best predictor of clinical phenotype when supratentorial tuber load and TSC 2 mutations were taken into consideration. The association between cerebellar lesions and a more severe clinical and neuroradiological phenotype was statistically significant and may be due to its strong association with TSC 2 mutations and higher cortical tuber load. Interpretation Cerebellar involvement is not the best predictor of neurobehavioural outcome, including TSC ‐related autism, after adjusting for TSC 2 and the number of cortical tubers. Its role in the TSC clinical phenotype needs to be investigated further. What this paper adds Cerebellar involvement is a powerful predictor of supratentorial cortical involvement and a potential biomarker of disease severity. Cerebellar lesions significantly correlate with a more severe clinical and neuroradiological phenotype. Cerebellar involvement is not the best predictor of neurobehavioural outcome.

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