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VAVLA, MARINELA (2015) Atassie eredodegenerative ad esordio precoce: descrizione del pattern di alterazione patologica mediante neuroimaging avanzato e studio neuropsicologico per la definizione di indicatori paraclinici utili al monitoraggio dell'evoluzione o alla verifica di efficacia del trattamento. [Ph.D. thesis]

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Abstract (english)

Background/aims
Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenrative conditions caused by a GAA repeat triplet. There are no quantitative objective biomarkers to show reliable correlations with progression rate and disease severity.

Methods or Materials or Case Report
Twenty-one early-onset molecularly-defined FRDA patients underwent clinical-neuropsychological assessment. A subgroup of patients (n=17) and age-matched healthy controls (HC) underwent a neuroimaging study protocol on a 3T-MRI (DTI, fMRI). Non-parametric voxel-based permutations were performed on the WM-maps regions-of-interest (ROI), via a general linear model (GLM) (p<0.05). An fMRI sequence was acquired during a simple block-design finger-tapping task.

Results
All patients were homozygous for GAA expansion (mean GAA1 653.7±221), but one with a point-mutaion/170GAA. Age-at-onset: 10.6±4.6yrs, age-at-assessment 26.9±10.3yrs, disease-duration 16.3±8.8yrs. Deficit on executive and attentive functions were ob-served. We found altered FA and MD parameters, through voxel- and ROI-based analysis, in the cerebellar peduncles; corticospinal, lemnisceal systems, major commissural fibres, thalamic and optic radiations. A finger-tapping task demonstrated significantly higher cerebellar-cortex activation (lobule V, IV) in HC compared to FRDA.

Conclusion
We report our clinical and neuroimaging experience of a FRDA cohort in order to explore WM con-nectivity and motor dysfunction. DTI changes in selected areas and BOLD-signal in the cerebellar, ipsilateral cerebellar-cortex in response to a simple motor task show strong intergroup-discriminating power and may prove to be useful paraclinical disease markers. A longitudinal study is needed to investigate and validate the sensitivity of these indicators.

Abstract (italian)

Atassia di Friedreich (FRDA) e' una malattia neurodegenrativa a decorso progressivo. E' causata dall'espansione della tripletta GAA. Non esistono biomarkatori soggettivi per dimostrare efficacemente correlazioni valide con la progressione e la gravita' di malattia.
Metodi:
Abbiamo valutato 21 pazienti tramite un protocollo clinico/neuropsicologico. Un sottogruppo di 17 pazienti ed un gruppo di 13 soggetti sani sono stati sottoposti ad uno studio con protocollo di neuroimaging DTI e fMRI su uno scanner di 3Tesla. Sono state eseguite delle valutazioni non parametriche tipo permutazioni voxel-based sulle regioni di interesse (ROI) della sostanza bianca dell'encefalo tramite l'utilizzo di una modello lineare generale (GLM) (p < 0.05). Una sequenza di fMRI e' stata acquisita come semplice disegno a blocco di un compito motorio tipo finger tapping.
Risultati: Tutti i pazienti erano omozigoti per l'espansione GAA (media GAA1 653.7±221), uno di loro era eterozigote con 170 GAA ed una mutazione puntiforme. Eta' all'esordio 10.6, eta' alla visita 26.9±10.3aa, durata di malattia 16.3±8.8aa. Sono stati rilevati deficit delle funzioni attentive ed esecutive. Sono stati evidenziati alterazioni a carico dei parametri FA e MD, tramite un analisi voxel-based e ROI based localizzate come segue: peduncoli cerebellari, sistemi di fibre corticospinali, lemniscali, le grandi fibre commissurali, radiazioni ottiche e talamiche. Dall'analisi della fMRI con il compito motorie, e' risultato una maggiore attivazione della corteccia cerebellare (lobuli V e VI) nei controlli rispetto ai pazienti.

Conclusioni
Riportiamo uno studio clinico e di neuroimaging dalla nostra esperienza con un campione di pazienti con FRDA con l'obiettivo di esplorare la connettivita' e la funzionalita' motoria. Le variazioni DTI ed il segnale BOLD nella corteccia cerebellar in risposta ad uno stimolo motorio dimostrano una capacit' discriminativa intergruppo e potrebbero risultare marcatori paraclinici utili. Futuri studi longitudinali sono necessari per stdudiare e validare la sensitivita' di questi indicatori.

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EPrint type:Ph.D. thesis
Tutor:martinuzzi, andrea
Ph.D. course:Ciclo 27 > scuole 27 > ONCOLOGIA E ONCOLOGIA CHIRURGICA
Data di deposito della tesi:02 February 2015
Anno di Pubblicazione:02 January 2015
More information:Tesi scritta in inglese
Key Words:FRDA, Neuroimaging, Clinical, Neuropsychological
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/26 Neurologia
Struttura di riferimento:Dipartimenti > Dipartimento di Salute della Donna e del Bambino
Codice ID:8005
Depositato il:10 Nov 2015 12:07
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