- Suicide risk in frontotemporal lobe degeneration: to be considered, to be preventedAntonella Alberici
Department of Neurology, University of Brescia, Italy
Alzheimer Dis Assoc Disord 26:194-6. 2012..To the best of our knowledge, no data are available about self-harmful events in FTLD. This case report argues for the urgent need for developing specific tools for the assessment of suicidal ideation among at-risk population...
- Clinical, genetic, and neuroimaging features of Early Onset Alzheimer Disease: the challenges of diagnosis and treatmentAntonella Alberici
Neurologic Clinic, Spedali Civili University of Brescia, P zzale Spedali Civili 1, 25100 Brescia, Italy
Curr Alzheimer Res 11:909-17. 2014..This would be crucial to define the urgency of evidence-based treatment approaches. ..
- Results from a pilot study on amiodarone administration in monogenic frontotemporal dementia with granulin mutationA Alberici
Department of Medical Sciences, Clinic of Neurology, Spedali Civili, University of Brescia, Piazzale Spedali Civili 1, 25100, Brescia, Italy
Neurol Sci 35:1215-9. 2014..Despite the negative findings, it may be interesting to extend this attempt to a larger sample of subjects and to other alkalizing agents to restore granulin haploinsufficiency...
- Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patientsPaola Bossù
IRCCS Santa Lucia Foundation, Rome, Italy
J Neuroinflammation 8:65. 2011..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...
- Dementia, delusions and seizures: storage disease or genetic AD?A Alberici
Alzheimer Unit, IRCCS S Giovanni di Dio FBF, Brescia, Italy
Eur J Neurol 14:1057-9. 2007....
- Serum leptin levels are higher in females affected by frontotemporal lobar degeneration than Alzheimer's diseaseA Alberici
Department of Neurology, Brescia University, P zzale Spedali Civili 1, 25100 Brescia, Italy
J Neurol Neurosurg Psychiatry 79:712-5. 2008..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...
- The contribution of TMS to frontotemporal dementia variantsA Alberici
Department of Neurological Sciences, University of Brescia, Italy
Acta Neurol Scand 118:275-80. 2008..The present study aimed to measure the primary motor cortex (M1) inhibitory and facilitatory functions in patients affected by FTLD...
- Chromosome 17 in FTLD: from MAPT tau to progranulin and backA Alberici
Clinic of Neurology, Spedali Civili, University of Brescia, P zzale Spedali Civili, Brescia, Italy
Curr Alzheimer Res 8:229-36. 2011..In this review, we highlighted the milestones of these discoveries, and their implication for the development of future therapeuthical approaches...
- Topiramate weight loss in migraine patientsAntonella Alberici
Neurology Unit, Department of Medical and Surgical Sciences, University of Brescia, Italy
J Neurol Sci 278:64-5. 2009..In our clinical series, high BMI was not found a predictor of weight loss under TPM treatment. Unknown genetic and environmental factors that may determine the courses of weight loss under TPM therapy are still do be identified...
- EEG and granular osmiophilic elements in early-onset Alzheimer's diseaseAntonella Alberici
Neurological Clinic, Brescia University, Brescia, Italy
Neurodegener Dis 8:259-61. 2011..Posterior low pseudoperiodic sequences at EEG and GRODS elements at skin biopsy might constitute a signature in EOAD...
- The Frontal Behavioural Inventory (Italian version) differentiates frontotemporal lobar degeneration variants from Alzheimer's diseaseA Alberici
Department of Neurological Sciences, University of Brescia, Pzz le Spedali Civili 1, I 25100 Brescia, Italy
Neurol Sci 28:80-6. 2007..FTLD patients showed a characteristic behavioural profile. The FBI might be a reliable and useful diagnostic tool for dementias in clinical practice...
- Survival in frontotemporal lobar degeneration and related disorders: latent class predictors and brain functional correlatesB Borroni
Center for Aging Brain and Dementia, Department of Neurology, University of Brescia, Brescia, Italy
Rejuvenation Res 12:33-44. 2009....
- Revisiting brain reserve hypothesis in frontotemporal dementia: evidence from a brain perfusion studyB Borroni
Centre for Aging Brain and Dementia, Department of Neurology, University of Brescia, Brescia, Italy
Dement Geriatr Cogn Disord 28:130-5. 2009..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...
- Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriersB Borroni
Department of Neurology, University of Brescia, Brescia, Italy
Rejuvenation Res 11:585-95. 2008..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...
- Neuroanatomical correlates of behavioural phenotypes in behavioural variant of frontotemporal dementiaB Borroni
Center for Aging Brain and Dementia, Department of Neurology, University of Brescia, Brescia, Italy
Behav Brain Res 235:124-9. 2012..Targeting behavioural phenotypes instead of single behavioural symptoms may potentially provide a disease model in which to investigate brain substrates of behavioural abnormalities...
- Nature versus nurture in frontotemporal lobar degeneration: the interaction of genetic background and education on brain damageE Premi
Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, University of Brescia, Italy
Dement Geriatr Cogn Disord 33:372-8. 2012..Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder with a strong genetic background. It has been reported that modifiable factors, i.e. education (E), might act as proxies for reserve capacity...
- Tau forms in CSF as a reliable biomarker for progressive supranuclear palsyB Borroni
Centre for Aging Brain and Dementia, Department of Neurology, University of Brescia, Italy
Neurology 71:1796-803. 2008....
- Tau haplotype influences cerebral perfusion pattern in frontotemporal lobar degeneration and related disordersB Borroni
Department of Neurological Sciences, University of Brescia, Brescia, Italy
Acta Neurol Scand 117:359-66. 2008..The aim of this study was to determine whether tau genetic variability modulates the brain functional and the clinical phenotypic expression of FTLD...
- Action and object naming in frontotemporal dementia, progressive supranuclear palsy, and corticobasal degenerationM Cotelli
Istituto di Ricovero e Cura a Carattere Scientifico IRCCS San Giovanni di Dio Fatebenefratelli, Brescia, Italy
Neuropsychology 20:558-65. 2006..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...
- Frontotemporal dementia: impact of P301L tau mutation on a healthy carrierA Alberici
Neurobiology Lab, IRCCS S Giovanni di Dio FBF, 25123 Brescia, Italy
J Neurol Neurosurg Psychiatry 75:1607-10. 2004..We conclude that detection of these distinctive abnormalities should improve early diagnostic accuracy for FTD and help distinguish it from Alzheimer's disease...
- Prefrontal cortex rTMS enhances action naming in progressive non-fluent aphasiaM Cotelli
IRCCS Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy
Eur J Neurol 19:1404-12. 2012..It has been recently demonstrated that repetitive transcranial magnetic stimulation (rTMS) over the dorsolateral prefrontal cortex (DLPFC) improves action naming in healthy subjects and in subjects with Alzheimer's disease...
- BACE-2 is overexpressed in Down's syndromeL Barbiero
Neurobiology Laboratory, Memory Clinic, IRCCS Centro S Giovanni di Dio FBF, Brescia, Italy
Exp Neurol 182:335-45. 2003..These data highlight the importance of the extracellular compartment where BACE-2 overexpression could play a role in plaque formation in DS patients...
- Diffusion tensor imaging and voxel based morphometry study in early progressive supranuclear palsyA Padovani
Department of Medical Sciences, Neurology, University of Brescia, Italy
J Neurol Neurosurg Psychiatry 77:457-63. 2006..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...
- Mutation within TARDBP leads to frontotemporal dementia without motor neuron diseaseB Borroni
Centre for Ageing Brain and Neurodegenerative Disorders, University of Brescia, Brescia, Italy
Hum Mutat 30:E974-83. 2009..Our study suggests that TARDBP mutations can be pathogenetic of bvFTD without motor neuron disease. TARDBP screening needs to be considered in FTD cases...
- Italian Frontotemporal Dementia Network (FTD Group-SINDEM): sharing clinical and diagnostic procedures in Frontotemporal Dementia in ItalyB Borroni
Center of Neurodegenerative Disorders, Neurology Unit, University of Brescia, p le Spedali Civili 1, 25123, Brescia, Italy
Neurol Sci 36:751-7. 2015..In analogy to other European FTD consortia, future aims will be devoted to collect data on epidemiology of FTD and its subtypes and to provide harmonization of procedures among Centers. ..
- Detection of the presenilin 1 COOH-terminal fragment in the extracellular compartment: a release enhanced by apoptosisL Benussi
Scientific Institute IRCCS Centro San Giovanni di Dio Fatebenefratelli, Brescia, 25123, Italy
Exp Cell Res 269:256-65. 2001..This decrease was strongly associated to an impaired secretion of sAPP fragments, thus suggesting a role of PS1-CTF in the control of trafficking and generation of APP fragments...
- Non-replication of association between cathepsin D genotype and late onset Alzheimer diseaseG Menzer
Department of Human Genetics, University Hospital Hamburg Eppendorf, Germany
Am J Med Genet 105:179-82. 2001..Post hoc data analyses suggested that there might be a stronger effect of CTSD genotype on AD risk in males, and an interaction between CTSD and APOE genotypes in males but not females...
- Inhibition of energy metabolism down-regulates the Alzheimer related presenilin 2 geneR Ghidoni
Scientific Institute IRCCS Centro San Giovanni di Dio Fatebenefratelli, Italy
J Neural Transm 110:1029-39. 2003..Azide effect on PS2 expression was completely inhibited by the addition of an antioxidant suggesting that the imbalance of the cellular redox homeostasis modulates the expression of this gene...
- Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2U Finckh
Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
Neurogenetics 4:213-7. 2003..Odds ratio for LOAD due to homozygosity C/C was 1.89 (95% confidence interval 1.37-2.61). PLAU is a promising new candidate gene for LOAD, with allele C (P141) being a recessive risk allele or allele T (L141) conferring protection...
- Analysis of alpha-2-macroglobulin-2 allele as a risk factor in Alzheimer's diseaseF Nicosia
Neurobiology Laboratory, Alzheimer s Unit, IRCCS Centro San Giovanni di Dio Fatebenefratelli, via Pilastroni 4, I 25123 Brescia, Italy
Dement Geriatr Cogn Disord 12:305-8. 2001..89) or genotype frequency (p = 0.97) in the two different clinical series and in control subjects. The frequencies were not significantly different after stratification by APOE epsilon4 status...
- High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesU Finckh
Department of Human Genetics, University Hospital Eppendorf, University of Hamburg, Germany
Am J Hum Genet 66:110-7. 2000..We conclude that because of the lack of specific antemortem diagnostic markers for FAD and hereditary prion disease, all four genes should be included in a molecular diagnostic program in patients with EOD who had PFH...
- Presenilin 1 protein directly interacts with Bcl-2A Alberici
Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Centro S Giovanni di Dio, Neurobiology Laboratory, Alzheimer s Disease Unit, via Pilastroni 4, 25123 Brescia, Italy
J Biol Chem 274:30764-9. 1999..The results support the idea of cross-talk between these two proteins during apoptosis...