The ALS diagnosis requires an integrative approach, combining the clinical examination and supporting tests. Nevertheless, in several cases, the diagnosis proves to be suboptimal, and for this reason, new diagnostic methods and novel biomarkers are catching on. The 18F-fluorodeoxyglucose (18F-FDG)-PET could be a helpful method, but it still requires additional research for sensitivity and specificity. We performed an 18F-FDG-PET single-subject analysis in a sample of familial ALS patients carrying different gene mutations, investigating the genotype-phenotype correlations and exploring metabolism correlations with clinical and neuropsychological data.
Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers
Tondo, Giacomo;Mazzini, Letizia;Corrado, Lucia;Matheoud, Roberta;D'Alfonso, Sandra;Cantello, Roberto;Sacchetti, Gian Mauro;Comi, Cristoforo;De Marchi, Fabiola
2022-01-01
Abstract
The ALS diagnosis requires an integrative approach, combining the clinical examination and supporting tests. Nevertheless, in several cases, the diagnosis proves to be suboptimal, and for this reason, new diagnostic methods and novel biomarkers are catching on. The 18F-fluorodeoxyglucose (18F-FDG)-PET could be a helpful method, but it still requires additional research for sensitivity and specificity. We performed an 18F-FDG-PET single-subject analysis in a sample of familial ALS patients carrying different gene mutations, investigating the genotype-phenotype correlations and exploring metabolism correlations with clinical and neuropsychological data.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
