Antonio Orlacchio

Summary

Affiliation: Fondazione Santa Lucia
Country: Italy

Publications

  1. ncbi Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
    Nikolaos Refenes
    School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece
    BMC Neurol 9:26. 2009
  2. ncbi Neuroacanthocytosis associated with a defect of the 4.1R membrane protein
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy
    BMC Neurol 7:4. 2007
  3. ncbi RNA interference as a tool for Alzheimer's disease therapy
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello, Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, 64 Via del Fosso di Fiorano, 00143 Rome, Italy
    Mini Rev Med Chem 7:1166-76. 2007
  4. ncbi Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4
    A Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello CERC, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Santa Lucia, 64 Via del Fosso di Fiorano, Rome 00143, Italy
    Neurology 70:1959-66. 2008
  5. ncbi Research actuality in the genetics of stroke
    Antonio Orlacchio
    Laboratorio di Neurogenetica, I R C C S Santa Lucia, Rome, Italy
    Clin Exp Hypertens 28:191-7. 2006
  6. ncbi The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus
    Antonio Orlacchio
    Laboratorio di Neurogenetica, CERC IRCCS Santa Lucia, Rome, Italy and Dipartimento di Neuroscienze, Universita di Roma Tor Vergata, Rome, Italy
    Med Sci Monit 14:CR233-237. 2008
  7. ncbi Stem cells: an overview of the current status of therapies for central and peripheral nervous system diseases
    A Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello CERC, Istituto di Ricovero e Cura, a Carattere Scientifico IRCCS Santa Lucia, 64 Via del Fosso di Fiorano, 00143, Rome, Italy
    Curr Med Chem 17:595-608. 2010
  8. ncbi SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
    Antonio Orlacchio
    Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, 64 Via del Fosso di Fiorano, Rome 00143, Italy
    Brain 133:591-8. 2010
  9. ncbi New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy
    Ann Neurol 58:423-9. 2005
  10. ncbi Stem cells and neurological diseases
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello, Istituto di Ricovero e Cura a Carattere Scientifico, Via del Fosso di Fiorano 64, Santa Lucia, Rome, Italy
    Discov Med 9:546-53. 2010

Collaborators

Detail Information

Publications34

  1. ncbi Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease
    Nikolaos Refenes
    School of Pharmacy, Department of Pharmaceutical Technology, National and Kapodistrian University of Athens, Athens, Greece
    BMC Neurol 9:26. 2009
    ..Therefore, we set out to determine whether the H1 haplotype and additional single nucleotide polymorphisms (SNPs) included in H1 are associated with PD in a sample of Greek patients...
  2. ncbi Neuroacanthocytosis associated with a defect of the 4.1R membrane protein
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy
    BMC Neurol 7:4. 2007
    ..We report clinical, biochemical, and genetic features in four patients from four unrelated families with NA in order to explain the cause of morphological abnormalities and the relationship with neurodegenerative processes...
  3. ncbi RNA interference as a tool for Alzheimer's disease therapy
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello, Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, 64 Via del Fosso di Fiorano, 00143 Rome, Italy
    Mini Rev Med Chem 7:1166-76. 2007
    ..This review highlights recent advances in RNA research and focuses on strengths and weaknesses of RNAi compounds in Alzheimer's disease...
  4. ncbi Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4
    A Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello CERC, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Santa Lucia, 64 Via del Fosso di Fiorano, Rome 00143, Italy
    Neurology 70:1959-66. 2008
    ....
  5. ncbi Research actuality in the genetics of stroke
    Antonio Orlacchio
    Laboratorio di Neurogenetica, I R C C S Santa Lucia, Rome, Italy
    Clin Exp Hypertens 28:191-7. 2006
    ..Understanding the causes of stroke and its effect will allow definition of high-risk populations and make possible specific programs of primary and secondary prevention as well as new therapeutic approaches where prevention has failed...
  6. ncbi The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus
    Antonio Orlacchio
    Laboratorio di Neurogenetica, CERC IRCCS Santa Lucia, Rome, Italy and Dipartimento di Neuroscienze, Universita di Roma Tor Vergata, Rome, Italy
    Med Sci Monit 14:CR233-237. 2008
    ..It is hypothesized that apolipoprotein E (Apo E), which is involved in cholesterol metabolism, might play a role in this process...
  7. ncbi Stem cells: an overview of the current status of therapies for central and peripheral nervous system diseases
    A Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello CERC, Istituto di Ricovero e Cura, a Carattere Scientifico IRCCS Santa Lucia, 64 Via del Fosso di Fiorano, 00143, Rome, Italy
    Curr Med Chem 17:595-608. 2010
    ..In this review, we discuss the molecular basis of stem cell therapy and the advancement of research on regenerative medicine for diseases and injuries of the nervous system...
  8. ncbi SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
    Antonio Orlacchio
    Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, 64 Via del Fosso di Fiorano, Rome 00143, Italy
    Brain 133:591-8. 2010
    ..Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis...
  9. ncbi New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy
    Ann Neurol 58:423-9. 2005
    ..3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7), involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations...
  10. ncbi Stem cells and neurological diseases
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello, Istituto di Ricovero e Cura a Carattere Scientifico, Via del Fosso di Fiorano 64, Santa Lucia, Rome, Italy
    Discov Med 9:546-53. 2010
    ....
  11. ncbi Clinical and genetic study of a large SPG4 Italian family
    Antonio Orlacchio
    Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome, Italy
    Mov Disord 20:1055-9. 2005
    ....
  12. ncbi Hereditary spastic paraplegia: clinical genetic study of 15 families
    Antonio Orlacchio
    Laboratorio di Neurogenetica, Istituto di Ricovero e Cura a Carattere Scientifico, Santa Lucia, Rome, Italy
    Arch Neurol 61:849-55. 2004
    ..Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia...
  13. ncbi A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts
    A Orlacchio
    Laboratory of Neurogenetics, University of Rome Tor Vergata, Rome, Italy
    Neurology 62:1875-8. 2004
    ..A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract...
  14. ncbi Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene
    Antonio Orlacchio
    Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome, Italy
    Neurosci Lett 363:49-53. 2004
    ..Our investigation suggests that the two promoter SNPs are unrelated to the development of AD, however, further investigation at the promoter region of NCSTN may be necessary to address its potential implication of gene expression in AD...
  15. ncbi Clinical and genetic study of a large Italian family linked to SPG12 locus
    A Orlacchio
    Laboratorio di Neurogenetica, I R C C S Santa Lucia, Rome, Italy
    Neurology 59:1395-401. 2002
    ..To date, two families of SPG12 (chromosome 19q13) have been analyzed; however, there is not enough clinical information on SPG12 to establish locus-phenotype correlations...
  16. ncbi Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms
    Antonio Orlacchio
    Laboratorio di Neurogenetica, IRCCS Santa Lucia, Via Ardeatina 354, 00179, Rome, Italy
    Neurosci Lett 333:115-8. 2002
    ..But considering its biological effects, the result can not exclude the NCSTN as candidate for genetic factor in AD. Further genetic study of the NCSTN would be necessary to evaluate the potential genetic involvement in AD...
  17. ncbi Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease
    Antonio Orlacchio
    Laboratorio di Neurogenetica, I R C C S Santa Lucia, Via Ardeatina 354, 00179, Rome, Italy
    Neurosci Lett 325:13-6. 2002
    ..Our result suggests that the 267C allele of the 5-HT(6) receptor gene may not be a genetic risk factor for AD...
  18. ncbi CSF markers in Alzheimer disease patients are not related to the different degree of cognitive impairment
    Alessandro Stefani
    IRCCS Fondazione S Lucia, Rome, Italy
    J Neurol Sci 251:124-8. 2006
    ..Conversely, t-tau concentration correlates with the transition towards marked cognitive impairment...
  19. ncbi Influence of PSA, PSA velocity and PSA doubling time on contrast-enhanced 18F-choline PET/CT detection rate in patients with rising PSA after radical prostatectomy
    Orazio Schillaci
    Department of Biopathology and Diagnostic Imaging, Interventional, University Tor Vergata, Rome, Italy
    Eur J Nucl Med Mol Imaging 39:589-96. 2012
    ..To evaluate the accuracy of contrast-enhanced (18)F-choline PET/CT in restaging patients with prostate cancer after radical prostatectomy in relation to PSA, PSA velocity (PSAve) and PSA doubling time (PSAdt)...
  20. ncbi Liver elasticity in NASH patients evaluated with real-time elastography (RTE)
    Antonio Orlacchio
    Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology, and Radiation Therapy, University Hospital Tor Vergata, Rome, Italy
    Ultrasound Med Biol 38:537-44. 2012
    ..92. We suggest that RTE could be used as a complementary imaging method to evaluate liver fibrosis in NASH patients. Future studies of larger patient cohorts are necessary for the validation of the technique...
  21. ncbi Patterns of cognitive impairment in secondary progressive stable phase of multiple sclerosis: correlations with MRI findings
    U Nocentini
    IRCCS S Lucia, Rome, Italy
    Eur Neurol 45:11-8. 2001
    ..These findings suggest that in MS, overall macroscopic and microscopic brain damage is more important than the corresponding focal brain disease, even in determining deficits of selective cognitive domains...
  22. ncbi Liver contrast enhanced ultrasound perfusion imaging in the evaluation of chronic hepatitis C fibrosis: preliminary results
    Antonio Orlacchio
    Department of Diagnostic Imaging Molecular Imaging Interventional Radiology, and Radiation Therapy, University Hospital Tor Vergata, Rome, Italy
    Ultrasound Med Biol 37:1-6. 2011
    ..However, further large-scale studies are required to accurately assess its accuracy in the evaluation of liver fibrosis...
  23. ncbi AD with subcortical white matter lesions and vascular dementia: CSF markers for differential diagnosis
    Alessandro Stefani
    CERC IRCCS Fondazione Santa Lucia, Rome, Italy
    J Neurol Sci 237:83-8. 2005
    ..VD patients and possibly to improve diagnostic accuracy in clinical forms, improperly classified as "mixed dementia" based on radiological vascular lesions...
  24. ncbi 18F-choline PET/CT physiological distribution and pitfalls in image interpretation: experience in 80 patients with prostate cancer
    Orazio Schillaci
    Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy, University Hospital Tor Vergata, Rome, Italy
    Nucl Med Commun 31:39-45. 2010
    ..The aim of this study was to describe the whole-body physiologic distribution of 18F-choline and to discuss some abnormal sites of uptake not related to PC we observed...
  25. ncbi Treatment of the symptoms of Huntington's disease: preliminary results comparing aripiprazole and tetrabenazine
    Livia Brusa
    UOC Neurologia, Ospedale Sant Eugenio, Rome, Italy
    Mov Disord 24:126-9. 2009
    ..A larger group of patients and a longer period of observation are an important prerequisite for further evaluations of AP's therapeutic use...
  26. ncbi Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy
    C Pachatz
    Clinica Neurologica, Dipartimento di Neuroscienze, Universita di Roma Tor Vergata, Via Montpellier 1, 00133 Roma, Italy
    Clin Neurophysiol 118:262-8. 2007
    ..The aim of our study was to investigate the presence of subclinical upper motor neuron (UMN) dysfunction in this disease...
  27. ncbi Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity
    Giovanni Stevanin
    INSERM U679, Salpetriere Hospital, 47 Boulevard de l Hopital, 75013 Paris, France
    Neurogenetics 7:149-56. 2006
    ..Our findings suggest that ARHSP-TCC is the most frequent form of ARHSP in Mediterranean countries and that it is particularly frequent in Italy...
  28. ncbi Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
    Satoshi Kaneko
    Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute, Osaka, Japan
    Mov Disord 21:1531-3. 2006
    ..A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6...
  29. ncbi A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia
    Masaru Matsui
    J Neurol 254:972-4. 2007
  30. ncbi Characterization of human Enah gene
    Lorena Urbanelli
    Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Sezione di Biochimica e Biologia Molecolare, Universita degli Studi di Perugia, Via del Giochetto, 06122 Perugia, Italy
    Biochim Biophys Acta 1759:99-107. 2006
    ..Alternatively spliced isoforms were isolated by RT-PCR. The gene is differentially expressed and to gain insight factors affecting its expression we cloned and preliminarily characterized human Enah gene promoter...
  31. ncbi Spontaneous sleep modulates the firing pattern of parkinsonian subthalamic nucleus
    Alessandro Stefani
    CERC IRCCS Fondazione S Lucia, Via Ardeatina 306, Roma, Italy
    Exp Brain Res 168:277-80. 2006
    ..Further, it is suggested that specific STN electrophysiological features are potential targets for future therapeutic interventions...
  32. ncbi Cathepsin D expression is decreased in Alzheimer's disease fibroblasts
    Lorena Urbanelli
    Dipartimento di Medicina Sperimentale e Scienze Biochimiche, Universita di Perugia, Via del Giochetto, Perugia 06126, Italy
    Neurobiol Aging 29:12-22. 2008
    ..Overall results reinforce the hypothesis that a lysosomal impairment may be involved in AD pathogenesis and can be detected not only in the CNS but also at a peripheral level...
  33. ncbi Up-regulation of glycohydrolases in Alzheimer's Disease fibroblasts correlates with Ras activation
    Carla Emiliani
    Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari, , Via del Giochetto, 06122 Perugia, Italy
    J Biol Chem 278:38453-60. 2003
    ..These data also provide the first proof for a role of Ras in regulating lysosomal glycohydrolases expression...
  34. ncbi Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results
    Francesco Sardanelli
    University of Milan School of Medicine, Department of Medical and Surgical Sciences, Unit of Radiology, IRCCS Policlinico San Donato, Via Morandi 30, 20097 San Donato Milanese, Milan, Italy
    Radiology 242:698-715. 2007
    ....