Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex
Articolo
Data di Pubblicazione:
2019
Citazione:
Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex / I. Toldo, S. Bugin, E. Perissinotto, M.F. Pelizza, A. Vignoli, C. Parazzini, M.P. Canevini, M. Nosadini, S. Sartori, R. Manara. - In: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. - ISSN 0012-1622. - 61:10(2019 Oct), pp. 1221-1228. [10.1111/dmcn.14313]
Abstract:
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 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.
INTERPRETATION:
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.
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.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
I. Toldo, S. Bugin, E. Perissinotto, M.F. Pelizza, A. Vignoli, C. Parazzini, M.P. Canevini, M. Nosadini, S. Sartori, R. Manara
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