Barbara Borroni

..0001). The present study provides evidence that donepezil influences APP metabolism in platelets, and suggests that ApoE genotype might be an important modulating factor for drug responsiveness in AD...

..7 (95% CI 3.7-104.3) compared with PD. These data suggest that the occurrence of combination of PRs might be an useful additional warning sign of possible diffuse Lewy body pathology more than other causes of extrapyramidal syndrome...

..APOE is the most recognized genetic risk factor for sporadic late-onset Alzheimer disease (AD). The role of APOE genotype in Lewy body dementia (LBD) is still unknown as well as the relationship between APOE genotype and cholesterol levels...

..The aim of the present study was to evaluate whether the functional endothelial nitric oxide synthase (eNOS) Glu298Asp polymorphism, which has been demonstrated to decrease the endothelial NOS activity, might be a risk factor for migraine...

..Two major clinical variants of frontotemporal dementia (FTD) have been described: frontal variant (fvFTD) and temporal variant (tvFTD)...

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..Our findings suggest that compensatory mechanisms of brain plasticity are present in GRN-related FTLD, but with different patterns at a preclinical and symptomatic disease stage...

..BDNF Val66Met polymorphism may play a role as a modulator of the FTLD expression and may drive a selective damage in specific brain region affected by the disease...

..Targeting behavioural phenotypes instead of single behavioural symptoms may potentially provide a disease model in which to investigate brain substrates of behavioural abnormalities...

..The improvement of knowledge on early-onset neurodegenerative dementias allows us to reconsider its epidemiology and to rethink its impact on public polices. This would be crucial for defining the urgency of treatment approaches...

..We suggest that SPECT imaging, beyond a helpful tool in diagnostic assessment, may be an easily and accessible marker of disease outcome in FTLD. Further studies considering structural neuroimaging are warranted...

..The case herein reported further confirms the heterogeneity of PSEN1 mutations and the need to take into account genetic screening in those cases with atypical presentation...

..In this continuously new findings on molecular targets and modifying therapies in FTLD...

..Thus, our findings point to IL-6 as a possible specific mediator and a potential therapeutic target in this monogenic disease, suggesting that an enhanced inflammatory response might be indeed involved in its progression...

..Alteration of fiber tracts within the perisylvian language network might represent the early hallmark of subsequent aphasia onset. The study of other pedigrees of asymptomatic PGRN mutation carriers is warranted...

..Aim of the study was to evaluate whether age at disease onset modulate the heterogeneity of either cognitive impairment or behavioural disturbances in patients affected by bvFTD...

..The objective of this study was to investigate the cumulative effect of the genes likely involved in Alzheimer disease (AD)-related psychosis and their interaction with disease stage and environmental factors...

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..The study aimed to evaluate the frequency and pattern of presentation of behavioral disturbances in a large sample of CBDS and PSP patients by FBI...

..42-3.21) compared to MO. These data provide a further insight on the complex genotype-phenotype relationship involved in MA pathogenesis, and might eventually result in new and individualised prognostic and therapeutic measures...

..Our study suggests that TARDBP mutations can be pathogenetic of bvFTD without motor neuron disease. TARDBP screening needs to be considered in FTD cases...

..8%. The pattern of hypoperfusion 99mTc-ECD SPECT and the severity of memory deficits predict the risk of progression to probable AD dementia in MCI subjects...

..No reliable neuropsychological assessment balancing all FTLD aspects is available yet, thus no clear-cut follow-up study has been performed...

..In conclusion, this study supports a lower frequency of PGRN mutations amongst FTLD patients in Italy compared to literature data and further underlies the genetic heterogeneity of FTLD...

..More work is needed but available novel perspectives offered by recent introduced technologies shed some lights in identifying incipient Alzheimer disease in mild cognitive impairment subjects...

..The observation of overlapping clinical entities points the attention on the need of adjunctive diagnostic markers for early differential diagnosis...

..In particular, low education levels have been reported to be a risk factor for AD, but their contribution in FTD is yet not known...

..The aim of this study was to determine whether tau genetic variability modulates the brain functional and the clinical phenotypic expression of FTLD...

..The aim of this study was to determine whether ApoE genotype might play a key-role in influencing the cerebral functional pattern as well as the degree of memory deficits in FTLD patients...

..The aim of this study was to identify clinical FTLD presentation, based on cognitive and behavioural profile, and to define their SPECT functional correlations...

..No study has investigated the role of BDNF genetic variation and depressive symptoms in Alzheimer's disease (AD)...

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..44-8.76, P = 0.006) and C-C-A-C haplotypes (OR = 1.72, 95% CI = 1.03-2.87, P = 0.037) were overrepresented in AD-D. This study suggests that BDNF genetic variations play a role in the susceptibility to AD-related depression...

..Approaches combining APP form ratio along with neuroimaging markers show the promise to accurately identify AD, even in the pre-symptomatic stage...

..Lower APPr at baseline was the only predictor of progressive cognitive decline, suggesting that this biomarker might be a useful indicator of prognosis for patients with AD...

..001). The combined marker increases the discriminative power in identifying PSP and suggests that the interplay of different markers should be considered in future trials to enhance diagnostic accuracy from the early stages...

..Further studies aimed at defining the biological underpinnings of these findings are warranted...

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..The neuropathology of CBS is still unpredictable. CSF tau/abeta ratio is a reliable marker of AD...

..Conversely, no major environmental risk factors have been reported so far. A proper evaluation of known susceptibility factors related to PSP pathogenesis may help in defining neuroprotective therapeutic approaches...

..The aim of the present review is to discuss the impact and the role of genetic background in non-monogenic forms of FTLD, to highlight new potential pathogenetic and therapeutic targets...

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..This work further supports the need for TARDBP screening in FTLD. Also intronic splicing that affects mutations should be considered as well...

..These data argue that additional genes may confer disease risk to PSP and CBS, and to FTD as well, beyond the MAPT tau haplotype. Further studies are warranted...

..In the present review, we summarise the current literature on genetic risk factors to BPSD susceptibility in AD and discuss future possible treatment strategies...

..To evaluate whether treatment with acetylcholinesterase inhibitors (AChEIs) exerts a favorable effect on the behavioral dimensions in Alzheimer disease (AD) over time...

..87, and the negative predictive value was 0.90. This observation suggests that the interplay of different markers should be considered for enhancing diagnostic accuracy of pre-clinical AD...

..Reliable scales of global impairment are under evaluation. A consortium of Mayo Clinic and University of California FTLD Centers has recently developed the FTLD-modified Clinical Dementia Rating (CDR) scale to assess FTLD severity...

..FTLD is a more common form of dementia than previously recognized. Our results claimed that FTLD is not only an early-onset disorder, but it is frequent in advanced age as well...

..In this review, we summarise the most recent findings on biological markers and their usefulness in clinical practice for the diagnosis and management of FTLD...

..These findings suggest that COMT polymorphism influences on the risk of psychosis since the early stages, and claims for the possibility to identify distinct phenotypes on genetic basis among AD patients...

..Establishing whether FTLD represents a continuum or recognizes distinct subgroups may be crucial for diagnostic purposes and therapeutic approaches...

..Literature data on Alzheimer's disease suggest that years of schooling and occupational level are associated with a reserve mechanism. No data on patients with behavioral variant frontotemporal dementia (bvFTD) are available yet...

..02). These findings provide direct evidence that CYP46 and ApoE polymorphisms synergically increase the risk for AD development, and influence on the rate of cognitive decline...

..These findings confirm the association between cholesterol and AD, and suggest that in vivo cholesterol affects APP processing by interfering with its maturation...

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..A founder effect or a genetic drift might be considered for an allelic enrichment. Ongoing study aims to identify the presence of a new genetic form in those FTLD patients without known pathogenetic mutations in this isolated population...

..05) and sE-sel (p<0.05) values towards the normal range was observed. These findings suggest that endothelial-related ChEIs action might contribute to the clinical efficacy in AD, slowing down pathology progression...

..In order to assess the status of syntactic knowledge in a group of patients belonging to the FTD spectrum, we investigated their ability to detect violations of Universal Grammar principles in a sentence judgement task...

..Patients affected by sporadic Alzheimer disease (AD) show a significant alteration of amyloid precursor protein (APP) forms in platelets when compared with patients with dementia but without AD and age-matched controls...

..Careful description of the spectrum of presentation of FTD may be of help for further understanding the underpinnings of the disease...

..The structural abnormalities related to a key feature of CBDS (limb apraxia) are unknown...

..In this review, we summarise the most recent findings on combined biomarkers and their usefulness in clinical practice for the early and preclinical diagnosis of AD...

..Alteration of the amyloid precursor protein (APP) forms ratio has been described in the platelets of patients with dementia of Alzheimer type (DAT) and in a subset of subjects with mild cognitive impairment (MCI)...

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..005). Genetic variations within FOXP2 do not represent a genetic risk to FTLD per se, but modulate FTLD presentation when disease is overt, affecting language performances and leading to hypoperfusion in language-associated brain areas...

..These findings support that mVCI represents a heterogeneous, in some cases reversible condition. CEA might be considered a therapeutic option to treat and prevent cognitive decline in mVCI patients...

..These findings strongly indicate that platelet dysfunction and microvasculature deficiencies occur rather early during the course of AD, thus suggesting a further link between AD-related processes and vascular disorders...

..This study, that firstly looked at genetic background in TGA, did not show a significant correlation between the BDNF Val66Met polymorphism and age of onset, risk factors, duration or recurrence of TGA...

..These noninvasive parameters might prove to be powerful predictive tools in the worsening of cognitive function and mortality risk...

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..This unexpected finding shows that NfPPA may arise not only from cortical abnormalities in the language-dominant left hemisphere, but also from right hemisphere involvement in a right hander (crossed aphasia)...

..Overall, these data provide evidence for the first time that VEGF gene variability represents a susceptibility factor for sporadic FTLD, at least in an Italian population. Future confirmatory studies are mandatory...

..FTLD patients showed a characteristic behavioural profile. The FBI might be a reliable and useful diagnostic tool for dementias in clinical practice...

..Creutzfeldt-Jakob disease (CJD) is a subacute spongiform encephalopathy characterized by rapidly progressive dementia, hard to diagnose during life...

..These findings are promising in suggesting the identification of a marker for PSP diagnosis in clinical practice...

..Knowledge of the specific weight of BPSD in DLB would contribute to improve the allocation of health resources for dementia and to a better management of the disease...

..The ability of ultrasonography to characterize flow decreases makes such a technique an attractive tool for the study of AD, for the evaluation of pharmacological therapies and, possibly, for early diagnosis...

..4%) within a two year follow-up. Ultrasonography of the cervical arteries is a simple, non invasive and widespread technique useful in detecting CBF decline during the MCI stage, thus identifying patients who later will convert to AD...

..These findings indicate that action naming impairment is not a general feature of FTD, but rather is associated with conditions that affect the frontoparietal-subcortical circuits involved in action knowledge and action representation...

..The information regarding neuropsychiatric symptoms in the subtypes of mild cognitive impairment (MCI) is inadequate...

..A comprehensive characterisation of grey and white matter changes in progressive supranuclear palsy (PSP), the second most common extrapyramidal syndrome after Parkinson disease, is still not available...

..This prompted us to evaluate the influence of climatic parameters, and their variation on the incidence of TGA...

..The current study supports the view that action naming is affected in patients with PD, possibly reflecting the presence of prefrontal dysfunction...

..50+/-0.3, p<0.0001). These findings indicate that alteration of APP processing in platelets is an early event and suggest that this assay might be of diagnostic value in differentiating mild AD from normal ageing...

..The present study showed a selective gender difference in leptin levels between females with FTLD and AD, which may suggest specific cognitive and behavioural networks need to be investigated...

..An altered pattern of amyloid precursor protein (APP) forms consisting in a reduced ratio between the upper (130 kDa) and the lower (106 to 110 kDa) immunoreactivity bands has been described in platelets of patients with AD...

..No other association but diagnosis was found with thrombomodulin and sE-selectin. These findings suggest that endothelial dysfunction is an early event in AD patients...

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..The present study aimed to measure the primary motor cortex (M1) inhibitory and facilitatory functions in patients affected by FTLD...

..However, spare descriptions of TGA in patients with brain structural lesions have been reported. The aim of this study was to evaluate the prevalence of brain structural lesions among TGA patients...

..09). CONCLUSIONS: Administration of AChE inhibitors increases the ratio of APP forms in platelets of patients with AD, suggesting a potential effect of AChE inhibitors on APP trafficking or processing in a peripheral cell...

..The overlap between PDD and dementia with Lewy bodies suggests that they likely share similar underlying neuropathological processes...

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..Jugular vein valve incompetence (JVI) is commonly described in TGA patients, but its contributing role in TGA pathogenesis is still unknown. We investigated the possible relationship between JVI and pathogenetic mechanisms in TGA...

..11; chi2 = 6.38; beta = -3.29). These observations claim that TGA may be considered a complex epiphenomenon, and the sum of the trigger factors can be responsible for recurring of this almost unique-in-life event...

..CONCLUSION: These data provide evidence for clinical and functional heterogeneity among subjects with aMCI and suggest that 18FDG-PET findings combined with memory scores may be useful in predicting short-term conversion to AD...

..e., ADAM10) reduced in accessible cells of Alzheimer Disease (AD) patients? 2) Are ADAM10 levels in the peripheral cells of AD patients related to a concomitant decrease in alpha APPs?..