Parieto-occipital sulcus widening differentiates posterior cortical atrophy from typical Alzheimer disease

Fumagalli, Giorgio; Basilico, Paola; Arighi, Andrea; Mercurio, Matteo; Scarioni, Marta; Carandini, Tiziana; Colombi, A; Pietroboni, Anna M.; Sacchi, Luca; Conte, Giorgio; Scola, Elisa; Triulzi, Fabio; Scarpini, Elio; Galimberti, Daniela

doi:10.1016/j.nicl.2020.102453

Cited by 17 publications

(16 citation statements)

References 30 publications

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“…Recent investigations have revealed insights into the genetic architecture of sulcal depth 15 but genetic factors influencing other important and heritable features, such as sulcal width, depth and surface area, have not been examined at comparable scale 16 , 17 . Measures of sulcal morphology can serve as sensitive markers of aging 21 , 22 , 36 and intelligence 37 , and effects on these measures are partially independent of those on cortical thickness or surface area 38 . Thus, studying genetic influences on brain sulci may complement investigations of more traditional structural measures, offering greater understanding of the mechanisms guiding variation in human brain organisation and downstream associations with human health and disease 17 .…”

Section: Discussionmentioning

confidence: 99%

Genetic map of regional sulcal morphology in the human brain from UK biobank data

Sun

Pizzagalli²,

Shatokhina³

et al. 2022

Nat Commun

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Genetic associations with macroscopic brain structure can provide insights into brain function and disease. However, specific associations with measures of local brain folding are largely under-explored. Here, we conducted large-scale genome- and exome-wide associations of regional cortical sulcal measures derived from magnetic resonance imaging scans of 40,169 individuals in UK Biobank. We discovered 388 regional brain folding associations across 77 genetic loci, with genes in associated loci enriched for expression in the cerebral cortex, neuronal development processes, and differential regulation during early brain development. We integrated brain eQTLs to refine genes for various loci, implicated several genes involved in neurodevelopmental disorders, and highlighted global genetic correlations with neuropsychiatric phenotypes. We provide an interactive 3D visualisation of our summary associations, emphasising added resolution of regional analyses. Our results offer new insights into the genetic architecture of brain folding and provide a resource for future studies of sulcal morphology in health and disease.

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Section: Discussionmentioning

confidence: 99%

Genetic map of regional sulcal morphology in the human brain from UK biobank data

Sun

Pizzagalli²,

Shatokhina³

et al. 2022

Nat Commun

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“…Both measurements have a sensitivity of over 75% and a specificity of over 80%; Similarly, in the PA and GCA-F visual rating scales, some studies have demonstrated a good correlation between the PA visual rating scale with the automated tool. In the meantime, the different severity scores in the rating scale corresponded to different quantitative degrees of atrophy ( 44 , 45 ). When comparing frontal lobe atrophy, Ferreira et al ( 33 ) measured used fully automated and manual tracings quantitative imaging methods and provided a comprehensive validation with the GCA-F visual rating scale.…”

Section: Discussionmentioning

confidence: 99%

Characteristics of Cortical Atrophy and White Matter Lesions Between Dementia With Lewy Bodies and Alzheimer's Disease: A Case-Control Study

Zhu

Wang

et al. 2022

Front. Neurol.

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Introduction: Currently, there is still clinical overlap between dementia with Lewy bodies (DLB) and Alzheimer's disease (AD) patients, which may affect the accuracy of the early diagnosis of DLB. For better diagnosis and prognosis, further exploration of local cortical atrophy patterns and white matter lesions is needed.Methods: We reviewed the outpatient medical records of 97 DLB patients and 173 AD patients from January 2018 to September 2020 along with 30 matched outpatient clinic normal elderly people. MRI visual rating scales, including medial temporal lobe atrophy (MTA), global cortical atrophy-frontal subscale (GCA-F), posterior atrophy (PA), Fazekas scale, Evans Index and cerebral microbleeds were evaluated and analyzed in DLB and AD patients with different severities and normal controls.Results: Overall, patients with DLB had higher scores on all visual rating scales than the normal controls. Meanwhile, compared with AD, DLB had lower MTA scores in the mild to moderate groups (both p ≤ 0.001), but the GCA-F and PA scores were similar (all p > 0.05). The Fazekas scores in the moderate to severe DLB group were lower than those in the AD group (p = 0.024 and p = 0.027, respectively). In addition, the diagnostic performance and sensitivity of multiple imaging indicators for DLB were better than that of MTA alone (the combination of MTA, GCA-F, PA, Fazekas visual rating scales, AUC = 0.756, 95%CI: 0.700–0.813, sensitivity = 0.647, specificity = 0.804 and MTA visual rating scale, AUC = 0.726, 95%CI: 0.667–0.785, sensitivity = 0.497, specificity = 0.876, respectively).Conclusion: The medial temporal lobe of DLB patients was relatively preserved, the frontal and parietal lobes were similarly atrophied to AD patients, and the white matter hyperintensity was lighter than that in AD patients. Combined multiple visual rating scales may provide a novel idea for the diagnosis of early DLB.

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“…The sample of 15 HCs (7 females, 46.7%) had comparable mean age (69.5±6.52) and education (7.78). Their mean MMSE score was 29.25±0.96 [ 32 ].…”

Section: Resultsmentioning

confidence: 99%

“…We used as reference data the atrophy scores obtained by the same visual scales from a small sample of 15 healthy controls recruited in the Neurologic Unit of the same Hospital. This sample has been described in a previous article [ 32 ]. Considering the functional imaging, we resumed the [ 18 F]-FDG PET scan outcomes and made a comparison between CM-AD and CA-AD patients on them, by considering medial temporal hypo-metabolism, cortical regions targeted, and asymmetries in glucose metabolism reduction.…”

Section: Methodsmentioning

confidence: 99%

Diencephalic versus Hippocampal Amnesia in Alzheimer’s Disease: The Possible Confabulation-Misidentification Phenotype

Abbate

Trimarchi

Fumagalli

et al. 2023

JAD

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Background: Alzheimer’s disease (AD) is clinically heterogeneous, including the classical-amnesic (CA-) phenotype and some variants. Objective: We aim to describe a further presentation we (re)named confabulation-misidentification (CM-) phenotype. Methods: We performed a retrospective longitudinal case-series study of 17 AD outpatients with the possible CM-phenotype (CM-ADs). Then, in a cross-sectional study, we compared the CM-ADs to a sample of 30 AD patients with the CA-phenotype (CA-ADs). The primary outcome was the frequency of cognitive and behavioral features. Data were analyzed as differences in percentage by non-parametric Chi Square and mean differences by parametric T-test. Results: Anterograde amnesia (100%) with early confabulation (88.2%), disorientation (88.2%) and non-infrequently retrograde amnesia (64.7%) associated with reduced insight (88.2%), moderate prefrontal executive impairment (94.1%) and attention deficits (82.3%) dominated the CM-phenotype. Neuropsychiatric features with striking misidentification (52.9%), other less-structured delusions (70.6%), and brief hallucinations (64.7%) were present. Marked behavioral disturbances were present early in some patients and very common at later stages. At the baseline, the CM-ADs showed more confabulation (p < 0.001), temporal disorientation (p < 0.02), misidentification (p = 0.013), other delusions (p = 0.002), and logorrhea (p = 0.004) than the CA-ADs. In addition, more social disinhibition (p = 0.018), reduction of insight (p = 0.029), and hallucination (p = 0.03) persisted at 12 months from baseline. Both the CA- and CM-ADs showed anterior and medial temporal atrophy. Compared to HCs, the CM-ADs showed more right fronto-insular atrophy, while the CA-ADs showed more dorsal parietal, precuneus, and right parietal atrophy. Conclusion: We described an AD phenotype resembling diencephalic rather than hippocampal amnesia and overlapping the past-century description of presbyophrenia.

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Parieto-occipital sulcus widening differentiates posterior cortical atrophy from typical Alzheimer disease

Abstract: Highlights Parieto-occipital sulcus visual rating scale can distinguish PCA from typical AD. Visual rating scales have been validated using VBM and Brainvisa Morphologist. Visual rating score reflects sulcal widening rather than grey matter reduction.

Cited by 17 publications

References 30 publications

Genetic map of regional sulcal morphology in the human brain from UK biobank data

Genetic map of regional sulcal morphology in the human brain from UK biobank data

Characteristics of Cortical Atrophy and White Matter Lesions Between Dementia With Lewy Bodies and Alzheimer's Disease: A Case-Control Study

Diencephalic versus Hippocampal Amnesia in Alzheimer’s Disease: The Possible Confabulation-Misidentification Phenotype

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