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

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.

Tipo Pubblicazione: 
Articolo
Author or Creator: 
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
Publisher: 
Springer., Heidelberg;, Germania
Source: 
European journal of nuclear medicine and molecular imaging (Print) 41 (2014): 844–852. doi:10.1007/s00259-013-2667-5
info:cnr-pdr/source/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.; Lo
Date: 
2014
Resource Identifier: 
http://www.cnr.it/prodotto/i/323591
https://dx.doi.org/10.1007/s00259-013-2667-5
info:doi:10.1007/s00259-013-2667-5
http://www.scopus.com/record/display.url?eid=2-s2.0-84899124212&origin=inward
Language: 
Eng
ISTC Author: 
Ritratto di Marco Pagani
Real name: