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- Title
Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex.
- Authors
Toldo, Irene; Bugin, Samuela; Perissinotto, Egle; Pelizza, Maria Federica; Vignoli, Aglaia; Parazzini, Cecilia; Canevini, Maria Paola; Nosadini, Margherita; Sartori, Stefano; Manara, Renzo
- Abstract
<bold>Aim: </bold>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.<bold>Method: </bold>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).<bold>Results: </bold>The results from multivariable statistical analysis indicated that cerebellar involvement (34 out of 112 patients, none carrying a TSC1 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 TSC2 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 TSC2 mutations and higher cortical tuber load.<bold>Interpretation: </bold>Cerebellar involvement is not the best predictor of neurobehavioural outcome, including TSC-related autism, after adjusting for TSC2 and the number of cortical tubers. Its role in the TSC clinical phenotype needs to be investigated further.<bold>What This Paper Adds: </bold>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.
- Subjects
TUBEROUS sclerosis; MAGNETIC resonance imaging; PHENOTYPES; TUBERS; TUBEROUS sclerosis diagnosis; CEREBELLUM; GENETIC mutation; RETROSPECTIVE studies
- Publication
Developmental Medicine & Child Neurology, 2019, Vol 61, Issue 10, p1221
- ISSN
0012-1622
- Publication type
journal article
- DOI
10.1111/dmcn.14313