title: Functional MRI signal fluctuations highlight altered resting brain activity in Huntington's disease.
abstract: The fractional Amplitude of Low Frequency Fluctuations (fALFF) and the degree of local synchronization (Regional Homogeneity - ReHo) of resting-state BOLD signal have been suggested to map spontaneous neuronal activity and local functional connectivity, respectively. We compared voxelwise, independent of atrophy, the fALFF and ReHo patterns of 11 presymptomatic (ps-HD) and 28 symptomatic (sHD) Huntington's disease mutation carriers, with those of 40 normal volunteers, and tested their possible correlations with the motor and cognitive subscores of the Unified Huntington's Disease Rating Scale. In sHD patients, fALFF was mainly reduced bilaterally in parietal lobes (right precuneus being already affected in psHD), and in superior frontal gyri, and increased bilaterally in cerebellar lobules VI, VIII and IX, as well as in the right inferior temporal gyrus. In sHD, and to a lesser extent in psHD, ReHo was bilaterally reduced in putamina, cerebellar lobules III to VI, and superior medial frontal gyri, and increased in both psHD and sHD in fronto-basal cortices, and in the right temporal lobe. fALFF correlated inversely with cognitive scores in lobule IX of the cerebellum (mainly with total Stroop score, p < 0.0001), and in the medial portions of both thalami. These results are consistent with a reduced neuronal activity in the cortical components of the executive networks, known to be affected in Huntington's Disease, and with reduced local functional integration in subcortical and cerebellar components of the sensori-motor network. Cerebellar clusters of significant correlation of fALFF with executive function scores may be related to compensatory mechanisms.
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Edificio 10, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Sarappa
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University "Federico II", Edificio 17, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Salvatore
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University "Federico II", Edificio 17, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Edificio 10, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Sirio
authors.initials: S
authors.lastname: Cocozza
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University "Federico II", Edificio 17, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Cinzia Valeria
authors.initials: CV
authors.lastname: Russo
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University "Federico II", Edificio 17, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Saccà
authors.affiliation: Department of Advanced Biomedical Sciences, University "Federico II", Edificio 10, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Arturo
authors.initials: A
authors.lastname: Brunetti
authors.affiliation: Department of Neurosciences, Reproductive and Odontostomatological Sciences, University "Federico II", Edificio 17, Via S. Pansini 5, 80131, Naples, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.affiliation: Biostructure and Bioimaging Institute, National Research Council, Via T. De Amicis 95, 80145, Naples, Italy. quarante@unina.it.
authors.forename: Mario
authors.identifier: http://orcid.org/0000-0001-7836-454X
authors.initials: M
authors.lastname: Quarantelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D001931:Brain Mapping; D002560:Cerebrovascular Circulation / Q000502:physiology; D005260:Female; D007839:Functional Laterality; D006579:Heterozygote; D006801:Humans; D000071058:Huntingtin Protein / Q000235:genetics; D006816:Huntington Disease / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010100:Oxygen / Q000097:blood; D062706:Prodromal Symptoms; D012146:Rest; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D010100:Oxygen
keywords: Amplitude of low-frequency fluctuations; Huntington’s disease; Local functional connectivity; Regional homogeneity; Resting-state fMRI; Spontaneous neuronal activity