Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers

Giacomo Tondo; Letizia Mazzini; Silvia Paola Caminiti; Maria Francesca Sarnelli; Lucia CORRADO; Roberta Matheoud; Sandra D'ALFONSO; Roberto CANTELLO; Gian Mauro Sacchetti; Daniela Perani; Cristoforo COMI; Fabiola DE MARCHI

doi:10.1016/j.nicl.2022.103222

Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers

Giacomo Tondo, Letizia Mazzini, Silvia Paola Caminiti, Maria Francesca Sarnelli, Lucia CORRADO, Roberta Matheoud, Sandra D'ALFONSO, Roberto CANTELLO, Gian Mauro Sacchetti, Daniela Perani, Cristoforo COMI, Fabiola DE MARCHI

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	103222
Journal	NEUROIMAGE. CLINICAL
Volume	36
DOIs	https://doi.org/10.1016/j.nicl.2022.103222
Publication status	Published - 2022

Keywords

(18)F-FDG-PET
Amyotrophic lateral sclerosis
Brain metabolism
Genetic
Neurodegenerative diseases
Positron emission tomography

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10.1016/j.nicl.2022.103222

https://hdl.handle.net/11579/146502

Cite this

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title = "Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers",

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.",

keywords = "(18)F-FDG-PET, Amyotrophic lateral sclerosis, Brain metabolism, Genetic, Neurodegenerative diseases, Positron emission tomography, (18)F-FDG-PET, Amyotrophic lateral sclerosis, Brain metabolism, Genetic, Neurodegenerative diseases, Positron emission tomography",

author = "Giacomo Tondo and Letizia Mazzini and Caminiti, {Silvia Paola} and Sarnelli, {Maria Francesca} and Lucia CORRADO and Roberta Matheoud and Sandra D'ALFONSO and Roberto CANTELLO and Sacchetti, {Gian Mauro} and Daniela Perani and Cristoforo COMI and {DE MARCHI}, Fabiola",

note = "Publisher Copyright: {\textcopyright} 2022 The Authors",

year = "2022",

doi = "10.1016/j.nicl.2022.103222",

language = "English",

volume = "36",

pages = "103222",

journal = "NEUROIMAGE. CLINICAL",

issn = "2213-1582",

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TY - JOUR

T1 - Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers

AU - Tondo, Giacomo

AU - Mazzini, Letizia

AU - Caminiti, Silvia Paola

AU - Sarnelli, Maria Francesca

AU - CORRADO, Lucia

AU - Matheoud, Roberta

AU - D'ALFONSO, Sandra

AU - CANTELLO, Roberto

AU - Sacchetti, Gian Mauro

AU - Perani, Daniela

AU - COMI, Cristoforo

AU - DE MARCHI, Fabiola

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - (18)F-FDG-PET

KW - Amyotrophic lateral sclerosis

KW - Brain metabolism

KW - Genetic

KW - Neurodegenerative diseases

KW - Positron emission tomography

KW - (18)F-FDG-PET

KW - Amyotrophic lateral sclerosis

KW - Brain metabolism

KW - Genetic

KW - Neurodegenerative diseases

KW - Positron emission tomography

UR - https://iris.uniupo.it/handle/11579/146502

U2 - 10.1016/j.nicl.2022.103222

DO - 10.1016/j.nicl.2022.103222

M3 - Article

SN - 2213-1582

VL - 36

SP - 103222

JO - NEUROIMAGE. CLINICAL

JF - NEUROIMAGE. CLINICAL

ER -

Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers

Abstract

Keywords

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