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Romeo, Vincenzo (2009) Brain involvement in myotonic dystrophies. [Tesi di dottorato]

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Abstract (inglese)

Objective: to determine the degree of brain involvement in a cohort of DM1 and DM2 patients by brain investigations and functional tests and to compare the results of the two groups.
Background: Myotonic Dystrophies type 1 and type 2 (DM1, DM2) are multisystemic disorders due to polynucleotide expansions. Previous studies on brain involvement by neuroimaging and functional methods led to contradictory results. Materials and methods: 50 molecularly defined DM1 and 14 DM2, were recruited for the study. Age at recruitment, age at disease onset, disease duration and educational level were recorded. Neuromuscular assessment was done by MIRS. An extensive neuropsychological battery was performed in 48/50 DM1 and in a control group of 44 healthy matched subjects. 46/50 DM1 and 12/14 DM2 underwent brain MRI; 21/50 DM1 and 9/14 DM2 underwent brain perfusion SPECT, with semiquantitative analysis of the results. MRI images were classified by ARWMC (age related white matter changes) score, in order to quantify recurrence, localization, patterns of distribution of white matter hyperintense lesions (WMHLs) in our two cohorts. MRI results were matched to SPECT and to neuropsychological results. Results: 37/46 DM1 and 10/12 DM2 had abnormal MRI imaging, showing scattered supratentorial, bilateral, symmetrical focal or diffuse WMHLs. A typical temporoinsular diffuse subcortical pattern was seen in DM1 only, with no correlation with cognitive involvement. Major cognitive involvement was seen in the case of diffuse frontal lesions. A relationship with CTG expansion size was documented for DM1. SPECT showed minimal hypoperfusion in the posterior cortex planes, in DM1 and, to a lesser extent, in DM2. Very mild degrees of involvement in the DM2 cohort were seen. Conclusions: neuroimaging and functional investigations confirmed a more severe involvement of the brain in DM1 compared to DM2. A temporo-insular diffuse lesional pattern, specific for DM1, was found on MRI. This confirms greater expansion size as a risk factor for more extensive brain involvement in DM1.

Abstract (italiano)

Scopo. Determinare il grado di coinvolgimento cerebrale in una coorte di pazienti DM1 ed una di DM2, mediante indagini cerebrali strumentali e test funzionali; confrontare i risultati dei due gruppi.
Background: le distrofie miotoniche di tipo 1 e di tipo 2 (DM1, DM2) sono disordini multisistemici dovuti ad espansioni polinucleotidiche. Studi di imaging cerebrale e metodi funzionali hanno condotto a risultati contraddittori.
Materiali e metodi: sono stati reclutati 50 DM1 e 14 DM2 molecolarmente definiti. Sono state registrate l’età al reclutamento, all’esordio, durata di malattia e scolarità. E’ stata fatta una valutazione neuromuscolare con la scala MIRS. Una ampia batteria neuropsicologica è stata somministrata a 48/50 DM1 e ad un gruppo di controllo di 44 soggetti sani. 46/50 DM1 e 12/14 DM2 sono stati sottoposti a RMN cerebrale; 21/50 DM1 e 9/14 DM2 sono stati sottoposti a SPECT cerebrale di perfusione, con analisi semiquantitativa dei risultati. Le immagini RMN sono state classificate con la scala ARWMC (age related white matter changes), al fine di quantificare ricorrenza, localizzazione, patterns di distribuzione delle lesioni iperintense della sostanza bianca (WMHLs) nelle nostre due coorti. I risultati della RMN sono stati appaiati ai risultati della SPECT e dei test neuropsicologici.
Risultati: 37/46 DM1 e 10/12 DM2 avevano una RMN anormale, con WMHLs sparse sopratentoriali, bilaterali, simmetriche, focali o diffuse. Un tipico pattern diffuso sottocorticale temporoinsulare è stato osservato solo nella DM1, senza correlazione con il coinvolgimento cognitivo. Una maggiore compromissione cognitiva è stat osservata in caso di estese alterazioni frontali. Una relazione tra l’espansione nucleotidica CTG è stata documentata nella DM1. La SPECT ha mostrato una minima ipoperfusione a livello dei piani corticali posteriori nella DM1 e, in minor grado, nella DM2. E’ stato documentato un grado molto lieve di coinvolgimento cerebrale nella coorte DM2.
Conclusioni: l’imaging cerebrale e le indagini funzionali hanno confermato un coinvolgimento più severo nella DM1 rispetto alla DM2. Un pattern lesionale diffuso temporo-insulare, specifico in caso di DM1, è stato documentato in RMN. Si conferma che a maggior grado di espansione nucleotidica corrisponde un maggior grado di coinvolgimento cerebrale nella DM1.

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Tipo di EPrint:Tesi di dottorato
Relatore:Angelini, Corrado
Dottorato (corsi e scuole):Ciclo 21 > Scuole per il 21simo ciclo > SCIENZE MEDICHE, CLINICHE E SPERIMENTALI > NEUROSCIENZE
Data di deposito della tesi:29 Gennaio 2009
Anno di Pubblicazione:2009
Parole chiave (italiano / inglese):DM1, DM2, brain involvement, MRI, SPECT
Settori scientifico-disciplinari MIUR:Area 06 - Scienze mediche > MED/26 Neurologia
Struttura di riferimento:Dipartimenti > Dipartimento di Neuroscienze
Codice ID:1660
Depositato il:29 Gen 2009
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