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Istituto di scienze e tecnologie della cognizione

Torna all'elenco Contributi in rivista anno 2014

Contributo in rivista

Tipo: Articolo in rivista

Titolo: The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients

Anno di pubblicazione: 2014

Formato: Elettronico Cartaceo

Autori: Cistaro, Angelina; Pagani, Marco; Montuschi, Anna; Calvo, Andrea; Moglia, Cristina Torino; Canosa, Antonio; Restagno, Gabriella; Brunetti, Maura; Traynor, B. J.; Nobili, Flavio Mariano; Carrara, Giovanna; Fania, Piercarlo L.; Lopiano, Leonardo; Valentini, Maria Consuelo; Chiò, Adriano

Affiliazioni autori: Positron Emission Tomography Center IRMET S.p.A; Istituto Di Scienze E Tecnologie Della Cognizione, Rome; Karolinska University Hospital; Universita degli Studi di Torino; Neuroscience Institute of Turin; Azienda Ospedaliera Città della Salute e della Scienza di Torino; National Institutes of Health, Bethesda; Universita degli Studi di Genova; ALS Center

Autori CNR:

  • ADRIANO CHIò
  • ANGELINA CISTARO
  • MARCO PAGANI

Lingua: inglese

Abstract: Purpose Recently, a GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene, located on chromosome 9p21 has been demonstrated to be the commonest cause of familial amyotrophic lateral sclerosis (ALS) and to account for 5 to 10 % of apparently sporadic ALS. Relatively little is known about the brain metabolism profile of patients carrying the expansion. Our aim was to identify the [18F]FDG PET profile in ALS patients with the C9ORF72 expansion (C9ORF72-ALS). Methods Fifteen C9ORF72-ALS patients were compared with 12 patients with ALS and comorbid frontotemporal dementia (FTD) without the C9ORF72 expansion (ALSFTD) and 30 cognitively normal patients with ALS without mutations of ALS-related genes (sALS). The three groups were then cross-matched to 40 neurologically normal controls. All patients underwent FDG PET within 4 months of diagnosis. Results The C9ORF72-ALS patients compared with the sALS patients showed significant hypometabolism in the anterior and posterior cingulate cortex, insula, caudate and thalamus, the left frontal and superior temporal cortex, and hypermetabolism in the midbrain, bilateral occipital cortex, globus pallidus and left inferior temporal cortex. The ALS FTD patients compared with the sALS patients showed more limited hypometabolic areas, including the orbitofrontal, prefrontal, anterior cingulate and insular cortex, and hypermetabolic areas, including the bilateral occipital cortex, the left precentral and postcentral cortex and superior temporal gyrus. The C9ORF72-ALS patients compared with the ALS-FTD patients showed hypometabolism in the left temporal cortex. Conclusion ALS patients with the C9ORF72 hexanucleotide repeat expansion had a more widespread central nervous system involvement than ALS patients without genetic mutations, with or without comorbid FTD, consistent with their more severe clinical picture.

Lingua abstract: inglese

Pagine da: 844

Pagine a: 852

Rivista:

European journal of nuclear medicine and molecular imaging Springer.
Paese di pubblicazione: Germania
Lingua: inglese
ISSN: 1619-7070

Numero volume: 41

Numero fascicolo: 5

DOI: 10.1007/s00259-013-2667-5

Referee: Sì: Internazionale

Indicizzato da: Scopus [2-s2.0-84899124212]

Parole chiave:

  • Amyotrophic lateral sclerosis
  • C9ORF72 gene
  • FDG PET

URL: http://www.scopus.com/record/display.url?eid=2-s2.0-84899124212&origin=inward

Strutture CNR:

Moduli:

Allegati: 2014 EJNMMI C9ORF72 ALS FTD FDG PET (application/pdf)

 
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