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Lucchetta, Marta (2015) STUDIO DELLE AREE VISIVE IN PAZIENTI CON NEUROFIBROMATOSI DI TIPO 1 E GLIOMA DELLE VIE OTTICHE MEDIANTE RISONANZA MAGNETICA FUNZIONALE. [Tesi di dottorato]

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Abstract (inglese)

Neurofibromatosis 1 (NF1) is an autosomal dominant condition characterized by neuro-cutaneous involvement and a predisposition to tumour development. The most common NF1-associated central nervous system tumour is optic pathway glioma (OPG), affecting about 15% of NF1 patients and characterized by an unpredictable evolution with no clear prognostic factors identified so far.
Resting-state fMRI has recently emerged as a powerful tool for functional brain analysis, allowing the examination of brain functional networks.
The aim of our study was to analyze through resting-state fMRI the possible functional modifications of the visual network in patients affected by NF1 and OPG.
We enrolled 57 patients with NF1 (31 females and 16 males; mean age at brain MRI scan 13.31 ± 6.07). Of them 35 presented OPG: in 15 (42.8%) patients it involved only the optic nerves, in 20 (57.2%) also the chiasmatic area; of the latter, 5 (25%) patients also the posterior optic pathways. Eleven (19.3%) of our patients with NF1 presented altered visual acuity. All of them underwent resting-state brain fMRI to analyze the visual network. Nineteen subjects non-affected by NF1 were used as controls
Our data revealed a reduced connectivity in patients with NF1 and OPG limited to the optic nerves in the medial visual network in the area of paramedian cuneus bilaterally in the occipital lobe. No other significant difference were found in visual network connectivity between patients with larger OPG vs control or between patients with altered visual acuity vs. control.
In our study we analyzed the impact of OPG on the visual network in patients with NF1; we expected to find more significant abnormalities in patients affected with OPG involving largely the optic pathways, yet we detected a significant reduction of the network connectivity only in patients with OPG limited in the optic nerves. These findings may be secondary to the relatively small number of patients enrolled and to the indolent evolution of the OPG in our cohort of subjects. A follow-up study with a larger number of enrolled patients may help us clarify the possible predictive role of visual network connectivity in the OPG prognosis.

Abstract (italiano)

La Neurofibromatosi di tipo 1 (NF1), è una malattia neurocutanea monogenica caratterizzata dalla predisposizione allo sviluppo di tumori del sistema nervoso, sia benigni che maligni. Il glioma delle vie ottiche (OPG) è il tumore più comune in questi pazienti, con una prevalenza del 15% e un’evoluzione spesso imprevedibile; a tutt’oggi non sono stati individuati sicuri fattori prognostici.
L’obbiettivo del nostro studio è stato l’indagine tramite Risonanza Magnetica funzionale (fMRI) dell’impatto di OPG sulle reti neurali visive dei pazienti con NF1.
Sono stati selezionati 46 pazienti affetti da NF1 seguiti presso il nostro Dipartimento e 11 pazienti affetti da NF1 seguiti presso l’Ospedale Pediatrico di Genova (31 femmine e 16 maschi; età media alla fMRI 13.31 ± 6.07); 19 soggetti sani sono stati arruolati come controlli. I soggetti stati tutti sottoposti a Risonanza Magnetica con acquisizione di sequenze per lo studio funzionale e a valutazione oculistica con particolare attenzione all’acuità visiva.
Dei pazienti con NF1 35 presentavano OPG: in 15 (42.8%) coinvolgeva solo i nervi ottici, in 20 (57.2%) anche il chiasma e le vie retro-chiasmatiche; tra questi, in 5 (25%) casi erano coinvolti anche i tratti posteriori. Undici (19.3%) dei pazienti con NF1 presentavano acuità visiva alterata.
E’ stata confrontata con fMRI la connettività della rete neurale visiva in pazienti con NF1 e OPG con diversa estensione e nei controlli.
Si è rilevata una riduzione della connettività della rete neurale visiva statisticamente significativa tra i pazienti con NF1 e glioma delle vie ottiche limitato ai nervi ottici e controlli, nell’area corrispondente al cuneo paramediano bilaterale. Non sono emerse differenze significative tra gli altri gruppi.
La mancanza di chiari fattori prognostici noti per quanto riguarda l’OPG ci ha spinto a valutare le differenze funzionali delle reti neurali visive in pazienti affetti. I risultati ottenuti dimostrano inaspettatamente una differente connettività solo in coloro affetti da OPG limitato ai nervi ottici; uno studio di follow-up, effettuato su una popolazione di numerosità maggiore ci potrà aiutare a chiarire questi dati.

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Tipo di EPrint:Tesi di dottorato
Relatore:Clementi, Maurizio
Dottorato (corsi e scuole):Ciclo 27 > scuole 27 > MEDICINA DELLO SVILUPPO E SCIENZE DELLA PROGRAMMAZIONE > "EMATOONCOLOGIA, GENETICA, MALATTIE RARE E MEDICINA PREDITTIVA"
Data di deposito della tesi:28 Gennaio 2015
Anno di Pubblicazione:27 Gennaio 2015
Parole chiave (italiano / inglese):NF1, OPG, fMRI
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/03 Genetica medica
Struttura di riferimento:Dipartimenti > Dipartimento di Salute della Donna e del Bambino
Codice ID:7628
Depositato il:24 Nov 2015 16:46
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