Antonio Federico

Summary

Affiliation: University of Siena
Country: Italy

Publications

  1. doi request reprint Rare neurological diseases: a Pandora's box for neurology (an European and Italian perspective)
    A Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    Rev Neurol (Paris) 169:S12-7. 2013
  2. doi request reprint Hereditary cerebral small vessel diseases: a review
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    J Neurol Sci 322:25-30. 2012
  3. doi request reprint Mitochondria, oxidative stress and neurodegeneration
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    J Neurol Sci 322:254-62. 2012
  4. pmc Italian neurology: past, present and future
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    Funct Neurol 26:73-6. 2011
  5. ncbi request reprint Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy
    Antonio Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Child Neurol 18:633-8. 2003
  6. ncbi request reprint Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?
    A Federico
    Institute of Neurological Science, University of Siena, Italy
    J Neurol Sci 149:147-50. 1997
  7. ncbi request reprint Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation
    A Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy
    Neurology 67:353-5. 2006
  8. ncbi request reprint Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study
    A Federico
    Unit of Neurometabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy
    J Submicrosc Cytol Pathol 30:521-6. 1998
  9. ncbi request reprint The spectrum of mutations for CADASIL diagnosis
    A Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, I 53100 Siena, Italy
    Neurol Sci 26:117-24. 2005
  10. doi request reprint Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients
    Patrizia Formichi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Policlinico Le Scotte, V le Bracci, 2, 53100 Siena, Italy
    Neurol Sci 34:553-6. 2013

Detail Information

Publications144 found, 100 shown here

  1. doi request reprint Rare neurological diseases: a Pandora's box for neurology (an European and Italian perspective)
    A Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    Rev Neurol (Paris) 169:S12-7. 2013
    ..Finally, this report also covers the new initiative of the Italian Neurological Society to promote an information center for rare neurological diseases to disseminate information and knowledge to all neurologists working in this field...
  2. doi request reprint Hereditary cerebral small vessel diseases: a review
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    J Neurol Sci 322:25-30. 2012
    ..Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis...
  3. doi request reprint Mitochondria, oxidative stress and neurodegeneration
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    J Neurol Sci 322:254-62. 2012
    ..In the present review, we discuss several mitochondrial diseases as models of neurodegeneration...
  4. pmc Italian neurology: past, present and future
    Antonio Federico
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School, University of Siena, Italy
    Funct Neurol 26:73-6. 2011
    ....
  5. ncbi request reprint Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy
    Antonio Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Child Neurol 18:633-8. 2003
    ..We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with chenodeoxycholic acid, an essential drug for this disorder that is no longer available...
  6. ncbi request reprint Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: a new disease of the neuromuscular junction?
    A Federico
    Institute of Neurological Science, University of Siena, Italy
    J Neurol Sci 149:147-50. 1997
    ....
  7. ncbi request reprint Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation
    A Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy
    Neurology 67:353-5. 2006
    ..Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine...
  8. ncbi request reprint Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study
    A Federico
    Unit of Neurometabolic Diseases, Institute of Neurological Sciences, University of Siena, Italy
    J Submicrosc Cytol Pathol 30:521-6. 1998
    ..The association in the same patient of the two inherited diseases is merely casual and does not seem to influence the phenotypic expression of the two diseases...
  9. ncbi request reprint The spectrum of mutations for CADASIL diagnosis
    A Federico
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, I 53100 Siena, Italy
    Neurol Sci 26:117-24. 2005
    ..Here we report an update on mutations of the Notch3 gene and some information on the pathogenesis of the disease...
  10. doi request reprint Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients
    Patrizia Formichi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Policlinico Le Scotte, V le Bracci, 2, 53100 Siena, Italy
    Neurol Sci 34:553-6. 2013
    ..This result showed a protective effect of Cere against oxidative stress-induced apoptosis only in 30 % of the CADASIL patients, suggesting that the Notch3 gene probably does not influence the anti-apoptotic properties of Cere in vitro...
  11. doi request reprint A second MNGIE patient without typical mitochondrial skeletal muscle involvement
    Elena Cardaioli
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 31:491-4. 2010
    ..215-1 G>C) has been reported. Here, we describe an Italian patient with the same mutation and without mitochondrial skeletal muscle involvement, suggesting a possible genotype-phenotype correlation...
  12. ncbi request reprint Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene
    Elena Cardaioli
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Neuromuscul Disord 16:26-31. 2006
    ....
  13. doi request reprint Apoptosis in CADASIL: an in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients
    Patrizia Formichi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Physiol 219:494-502. 2009
    ..Since PBLs from patients showed higher levels of apoptosis even in the absence of an apoptotic stimulus, cells from CADASIL patients appear to be physiologically prone to apoptotic cell death...
  14. doi request reprint First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL
    Silvia Bianchi
    Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy
    Neurobiol Aging 34:2234.e9-12. 2013
    ..Our finding suggests that the assays used to evaluate splicing should be mandatory in the diagnostic setting of genetically undefined CADASIL cases...
  15. pmc A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
    Paola Da Pozzo
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy
    Eur J Hum Genet 17:1092-6. 2009
    ..The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations...
  16. doi request reprint Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene
    Elena Cardaioli
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 303:142-5. 2011
    ..Several point mutations on mitochondrial tRNA genes have been reported in patients affected by encephalomyopathies, but between them only four were reported for tRNASer(AGY)...
  17. ncbi request reprint Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 38:276-80. 2007
    ..The relationship of these changes with brain MRI pattern was also investigated...
  18. doi request reprint Evaluating the human ongoing visual search performance by eye tracking application and sequencing tests
    Giacomo Veneri
    Eye tracking and Vision Applications Lab, Department of Neurological Neurosurgical and Behavioral Science, University of Siena, Viale Bracci 2, Siena, Italy
    Comput Methods Programs Biomed 107:468-77. 2012
    ..The results reported a trend to move away from the last fixations correlated to the number of distracters and the execution performance...
  19. doi request reprint Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene
    Elena Radi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Mol Med 16:1916-23. 2012
    ..However, the deregulation of apoptosis in KRS patients displaying different disease severity suggested that the altered apoptotic pathway probably does not have a pathogenetic role in KRS by itself...
  20. ncbi request reprint A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss
    Elena Cardaioli
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena 53100, Italy
    Neuromuscul Disord 17:681-3. 2007
    ..Several point mutations on mitochondrial tRNA genes have been reported in PEO patients without large-scale rearrangements of mtDNA but no point mutations have hitherto been found in the gene coding for tRNA(Ser(UCN))...
  21. ncbi request reprint Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Neurology and Neurometabolic Disease Unit, Center for the Diagnosis, Prevention, and Therapy of Neurological Handicap, Department of Behavioral and Neurological Sciences, University of Siena Medical School, Siena, Italy
    Arch Neurol 61:577-80. 2004
    ..The occurrence of acute visual loss due to nonarteritic anterior ischemic optic neuropathy (NAION) has not previously been reported in CADASIL...
  22. ncbi request reprint Brain damage as detected by magnetization transfer imaging is less pronounced in benign than in early relapsing multiple sclerosis
    Nicola De Stefano
    Neurology and Neurometabolic Unit, Department of Neurological and Behavioral Sciences, University of Siena, Italy
    Brain 129:2008-16. 2006
    ..This can be due to an extraordinary beneficial response to demyelination of benign patients and may represent the evidence that benign multiple sclerosis truly exists and might be differentiated from other forms of this illness...
  23. doi request reprint The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosis
    Andrea Mignarri
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Italy
    Neuromuscul Disord 22:759-62. 2012
    ..This is the first Italian case of oculopharyngodistal myopathy, further suggesting the worldwide distribution of this rare neuromuscular disorder...
  24. ncbi request reprint Oxidative-stress-induced apoptosis in PBLs of two patients with Parkinson disease secondary to alpha-synuclein mutation
    Carla Battisti
    Department of Neurological and Behavioural Sciences, O U of Neurometabolic Disease, University of Siena, Siena, Italy
    J Neurol Sci 267:120-4. 2008
    ..We conclude that other environmental agents could play a key role in inducing programmed cell death in cells of PD patients with mutant alpha-synuclein...
  25. ncbi request reprint Peripheral neuropathy in CADASIL
    Francesco Sicurelli
    Dept of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol 252:1206-9. 2005
    ..The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse...
  26. doi request reprint Voxel-wise assessment of progression of regional brain atrophy in relapsing-remitting multiple sclerosis
    Marco Battaglini
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    J Neurol Sci 282:55-60. 2009
    ..To perform voxel-wise assessments of regional brain atrophy state and rate in subjects with relapsing-remitting (RR) multiple sclerosis (MS)...
  27. doi request reprint A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features
    Edoardo Malfatti
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 297:105-8. 2010
    ..Mitochondrial diseases due to mitochondrial tRNA genes mutations are usually multisystem disorders with infantile or adult onset...
  28. doi request reprint Retinal nerve fiber layer thinning in CADASIL: an optical coherence tomography and MRI study
    Alessandra Rufa
    Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Viale Bracci, Siena, Italy
    Cerebrovasc Dis 31:77-82. 2011
    ..The aim of this study was to investigate axonal degeneration in CADASIL by measuring RNFL thickness and correlating it with MRI measures of global and regional cerebral atrophy...
  29. doi request reprint Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation
    Elena Cardaioli
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 321:92-5. 2012
    ..The mutation T8306C is predicted to disrupt a highly conserved base pair and was not found in more than 120 controls. This finding broadens the phenotypic and molecular spectrum of mitochondrial tRNA(Lys) associated disorders...
  30. doi request reprint Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models
    Giuseppe Di Maio
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Siena, Italy
    J Cell Physiol 227:1771-5. 2012
    ....
  31. doi request reprint Voxel-based assessment of differences in damage and distribution of white matter lesions between patients with primary progressive and relapsing-remitting multiple sclerosis
    Carol Di Perri
    Neurology and Neurometabolic Unit, Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Arch Neurol 65:236-43. 2008
    ..However, very little is known about possible differences in damage and distribution that may occur within lesions visible on magnetic resonance imaging in the 2 forms of the disease...
  32. doi request reprint Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia
    Alessandro Malandrini
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    Anesthesiology 109:625-8. 2008
    ..In most cases, pathogenesis is unknown and clinical management is unclear. Though clinically asymptomatic, these subjects are potentially susceptible to malignant hyperthermia...
  33. doi request reprint The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
    Marzia Pollazzon
    Medical Genetics, Department Molecular Biology, University of Siena, Policlinico Le Scotte, Viale Bracci 2, 53100, Siena, Italy
    J Neurol 257:575-9. 2010
    ..No other disease causing mutations in the TTN gene have so far been reported in the Italian population...
  34. doi request reprint Cerebrolysin administration reduces oxidative stress-induced apoptosis in lymphocytes from healthy individuals
    Patrizia Formichi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Mol Med 16:2840-3. 2012
    ..Our work showed a protective effect of Cerebrolysin on oxidative stress-induced apoptosis and suggested that PBLs can be used as an easy obtainable and handy cell model to verify Cerebrolysin effects in neurodegenerative pathologies...
  35. pmc Relevance of brain lesion location to cognition in relapsing multiple sclerosis
    Francesca Rossi
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    PLoS ONE 7:e44826. 2012
    ..To assess the relationship between cognition and brain white matter (WM) lesion distribution and frequency in patients with relapsing-remitting multiple sclerosis (RR MS)...
  36. ncbi request reprint A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL
    Maria Teresa Dotti
    Unit of Neurology and Neurometabolic Diseases, Department of Neurological and Behavioral Sciences, University of Siena, Italy
    Arch Neurol 61:942-5. 2004
    ..These mutations result in a gain or a loss of 1 (or, rarely, 3) cysteine residue in 1 of 34 epidermal growth factor-like repeats in the extracellular amino-terminal region of NOTCH3...
  37. pmc Acute metabolic brain changes following traumatic brain injury and their relevance to clinical severity and outcome
    Silvia Marino
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol Neurosurg Psychiatry 78:501-7. 2007
    ..However, these changes were often assessed a few to several days after the trauma, with a consequent variation of the metabolic pattern due to temporal changes...
  38. ncbi request reprint A case of ovarioleukodystrophy without eIF2B mutations
    Carmen Gaudiano
    Department of Neurological and Behavioural Sciences, University of Siena, Italy
    J Neurol Sci 268:183-6. 2008
    ..We describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations...
  39. pmc Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy
    Gian Nicola Gallus
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, 53100 Siena, Italy
    Mol Vis 16:178-83. 2010
    ..Here we describe the clinical and molecular findings in a large Italian family with ADOA...
  40. pmc Ocular-motor profile and effects of memantine in a familial form of adult cerebellar ataxia with slow saccades and square wave saccadic intrusions
    Francesca Rosini
    Eye tracking and Visual Application Lab EVA Lab, Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy
    PLoS ONE 8:e69522. 2013
    ....
  41. ncbi request reprint Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis
    Alessandro Malandrini
    Unit of Neurometabolic Disease, Department of Neurological and Behavioural Sciences, University of Siena, Italy
    Brain Dev 30:291-4. 2008
    ....
  42. ncbi request reprint A new missense mutation in caveolin-3 gene causes rippling muscle disease
    M Teresa Dotti
    Department of Neurological and Behavioral Sciences, University of Siena, Italy
    J Neurol Sci 243:61-4. 2006
    ..We report a new Italian family with autosomal dominant rippling muscle disease. Immunocytochemical analysis of muscle showed a deficit of caveolin-3 protein and molecular genetic analysis showed a novel mutation of the Cav-3 gene...
  43. ncbi request reprint A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia
    Elena Cardaioli
    Department of Neurological and Behavioural Sciences, University of Siena, Italy
    Biochem Biophys Res Commun 327:675-8. 2005
    ..To date, besides large and single nucleotide deletions, several point mutations on mitochondrial tRNA genes have been reported in CPEO patients, but only three were in the gene coding for tRNA(Leu(CUN))...
  44. ncbi request reprint Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci, 53100 Siena, Italy
    Stroke 36:2554-8. 2005
    ....
  45. ncbi request reprint Magnetic resonance spectroscopy as a measure of brain damage in multiple sclerosis
    Nicola De Stefano
    Neurometabolic Unit, Department of Neurological and Behavioral Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol Sci 233:203-8. 2005
    ..The importance of these changes to patients' clinical disability argues for the primary role of neuronal pathology in the pathogenesis of the disease...
  46. ncbi request reprint Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities
    Antonio Giorgio
    Neurology and Neurometabolic Unit, Dept Neurological and Behavioral Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    J Neurol 253:1471-7. 2006
    ..To evaluate, by using quantitative MRI metrics, subtle cortical changes in brains of patients with the adult form of myotonic dystrophy type I (DM1) who showed no or minimal abnormalities on MRI...
  47. doi request reprint Clinical course of two italian siblings with ataxia-telangiectasia-like disorder
    Silvia Palmeri
    Department of Neurological, Neurosurgical and Behavioural Sciences, Medical School University of Siena, Siena, Italy
    Cerebellum 12:596-9. 2013
    ..The long follow-up provided insights into clinical outcome, with functional neuroimaging studies shedding light on the pathogenetic mechanisms of this rare disease. ..
  48. doi request reprint Oxidative stress-induced apoptosis in two patients with Alagille syndrome
    Elena Radi
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 308:49-56. 2011
    ..Moreover, the lack of caspase-8 activation in AGS patients indicates a possible selective impairment of caspase-8 cleavage suggesting that JAG1 plays a specific role in the regulation of caspase-8 activation...
  49. ncbi request reprint Commentary to mitDNA research for the pathogenesis of mitochondrial disorders
    Paola Da Pozzo
    Unit of Neurology and Neurometabolic Diseases, Department of Neurological and Behavioural Sciences, Centre for Research, Therapy and Prevention of Neurohandicap, University of Siena, Italy
    Biochem Biophys Res Commun 336:1003-4. 2005
  50. ncbi request reprint Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: clinical variability or effect of toxic environmental exposure?
    Alessandra Rufa
    Department of Neurological and Behavioral Sciences, Medical School, University of Siena, Siena, Italy
    Eur Neurol 53:32-4. 2005
    ..This report underlines a number of unanswered questions about phenotypic variability of LHON including the possible influence of PAH toxicity...
  51. ncbi request reprint Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Alessandra Rufa
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy
    Arch Neurol 61:1230-3. 2004
    ....
  52. pmc Improving the characterization of radiologically isolated syndrome suggestive of multiple sclerosis
    Nicola De Stefano
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    PLoS ONE 6:e19452. 2011
    ..To improve the characterization of asymptomatic subjects with brain magnetic resonance imaging (MRI) abnormalities highly suggestive of multiple sclerosis (MS), a condition named as "radiologically isolated syndrome" (RIS)...
  53. ncbi request reprint Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients
    Patrizia Formichi
    Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Physiol 212:737-43. 2007
    ..In conclusion, the reduced apoptotic response and the atypical cytokine production observed in our experiments, suggest an involvement of inflammatory pattern in immune peripheral cells of KP...
  54. ncbi request reprint Cerebrospinal fluid tau, A beta, and phosphorylated tau protein for the diagnosis of Alzheimer's disease
    Patrizia Formichi
    Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
    J Cell Physiol 208:39-46. 2006
    ..According to the literature analysis reported in the present review, we can conclude that the combination of the CSF markers and their ratios may significantly increase the specificity and the accuracy of AD diagnosis...
  55. doi request reprint Homozygosity and severity of phenotypic presentation in a CADASIL family
    Claudia Vinciguerra
    Department of Medicine, Surgery and Neurosciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 35:91-3. 2014
    ..We discuss these findings in relationship to previous data from the literature in CADASIL and in other dominant neurological disorders...
  56. doi request reprint Cerebellum and neuropsychiatric disorders: insights from ARSACS
    Andrea Mignarri
    Unit of Neurology and Neurometabolic Disorders, Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy
    Neurol Sci 35:95-7. 2014
    ..Our case reports further expand the ARSACS phenotype and add clinical data in favor of the hypothesized relationship between cerebellar dysfunction and psychiatric disorders. ..
  57. doi request reprint Visual system involvement in CADASIL
    Elena Pretegiani
    Department of Neurological, Neurosurgical, and Behavioural Sciences, University of Siena, Siena, Italy
    J Stroke Cerebrovasc Dis 22:1377-84. 2013
    ..Therefore, this study aims to precisely delineate the features and the prevalence of the visual system impairment in CADASIL...
  58. doi request reprint Occurrence of ankylosing spondylitis and multiple sclerosis-like syndrome in a HLA-B27 positive patient
    Andrea Mignarri
    Department of Neurological, Behavioural and Neurosurgical Sciences, Section of Neurological Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 30:329-32. 2009
    ..Visual evoked potentials were markedly altered. Cerebrospinal fluid examination was negative for intrathecal production of oligoclonal bands. Differential diagnosis was considered and other pathologies were excluded...
  59. doi request reprint Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting
    Daniela Marino
    Department of Neurological, Behavioural and Neurosurgical Sciences, Section of Neurological Sciences, University of Siena, Italy
    Epileptic Disord 14:85-9. 2012
    ..Conclusion. In this patient, PLEDs may have been triggered by local haemodynamic changes due to reperfusion after stenting in a previously damaged brain area...
  60. doi request reprint Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI
    Maria Laura Stromillo
    Neurology and Neurometabolic Unit, Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    J Neurol 258:2240-7. 2011
    ..The correlation of these MR metrics with measures of patients' disease severity suggests that they might represent adequate surrogate markers of disease outcome...
  61. ncbi request reprint Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation
    Maria Teresa Dotti
    Department of Neurological and Behavioral Sciences, Policlinico Le Scotte, Viale Bracci 2, 53100 Siena, Italy
    J Child Neurol 19:964-6. 2004
    ..Cardiovascular features similar to those observed in a Rett syndrome variant with preserved speech were found, suggesting sympathetic imbalance...
  62. ncbi request reprint Imaging brain damage in first-degree relatives of sporadic and familial multiple sclerosis
    Nicola De Stefano
    Department of Neurological and Behavioural Sciences, University of Siena, Italy
    Ann Neurol 59:634-9. 2006
    ..Our objective was to assess brain damage in first-degree relatives of patients with sporadic and familial multiple sclerosis (MS)...
  63. doi request reprint Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias
    Pamela Federighi
    Department of Neurological Neurosurgical and Behavioural Science, University of Siena, Siena 53100, Italy
    Brain 134:879-91. 2011
    ..In addition, as suggested by spinocerebellar patients having slow saccades that are no longer ballistic, visual feedback might be continuously available during the movement execution to guide the eye to its target...
  64. pmc The spectrum of Notch3 mutations in 28 Italian CADASIL families
    M T Dotti
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy
    J Neurol Neurosurg Psychiatry 76:736-8. 2005
    ..It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases...
  65. ncbi request reprint Lymphoblastoid cell lines of Rett syndrome patients exposed to oxidative-stress-induced apoptosis
    Carla Battisti
    Unit of Neurometabolic Diseases, Department of Neurology and Behavioural Sciences, Azienda Ospedaliera Senese and University, Siena, Italy
    Brain Dev 26:384-8. 2004
    ..The data observed here suggest that RS may have a low susceptibility or an increased resistance to the apoptotic cell death, which may be corrected only in the presence of a strong apoptotic stimulus...
  66. ncbi request reprint Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations
    Paola Da Pozzo
    Unit of Neurology and Neurometabolic Diseases, Department of Neurological and Behavioural Sciences and Centre for Research, Therapy and Prevention of Neurohandicap, University of Siena, Italy
    Biochem Biophys Res Commun 324:360-4. 2004
    ..This screening is therefore useful to extend the mtDNA polymorphism database and should facilitate definition of disease-related mutations in human mtDNA...
  67. doi request reprint Evaluating gaze control on a multi-target sequencing task: the distribution of fixations is evidence of exploration optimisation
    Giacomo Veneri
    Eye tracking and Visual Applications Lab, Department of Neurological Neurosurgical and Behavioral Science, University of Siena, Italy
    Comput Biol Med 42:235-44. 2012
    ..The paper discusses the method in healthy subjects...
  68. doi request reprint Neuromyotonia as paraneoplastic manifestation of bladder carcinoma
    Francesca Forte
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    J Neurol Sci 280:111-2. 2009
    ..Here we report an unpublished association of NMT and bladder cancer...
  69. ncbi request reprint Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study
    Carla Battisti
    Department of Neurological and Behavioural Sciences, University of Siena, Siena, Italy
    Mov Disord 18:1405-9. 2003
    ..This case expands the clinical and genetic spectrum of the rare adult-onset NPC disease phenotype...
  70. ncbi request reprint Influence of apolipoprotein E epsilon4 genotype on brain tissue integrity in relapsing-remitting multiple sclerosis
    Nicola De Stefano
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Arch Neurol 61:536-40. 2004
    ..This seems to be related to more extensive tissue destruction and less efficient neuronal maintenance and repair in ApoE epsilon4 carriers...
  71. ncbi request reprint Physiology and pathology of notch signalling system
    Silvia Bianchi
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy
    J Cell Physiol 207:300-8. 2006
    ....
  72. ncbi request reprint Diffuse axonal and tissue injury in patients with multiple sclerosis with low cerebral lesion load and no disability
    Nicola De Stefano
    Institute of Neurological Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy
    Arch Neurol 59:1565-71. 2002
    ..Other new MR measurements such as magnetization transfer ratio (MTr) or computed estimation of brain volume can provide less specific indexes of tissue damage...
  73. ncbi request reprint MR correlates of cerebral atrophy in patients with multiple sclerosis
    Nicola De Stefano
    Institute of Neurological Science, Viale Bracci 2, 53100, Siena, Italy
    J Neurol 249:1072-7. 2002
    ..To investigate the in-vivo correlates of brain atrophy in patients with multiple sclerosis (MS) by assessing the relationship between normalized measures of brain volume (NBV) and other magnetic resonance (MR) measures of tissue damage...
  74. ncbi request reprint Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy
    S Gambelli
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Eur Neurol 51:144-7. 2004
    ..We hypothesize that mitochondrial abnormalities may be a secondary phenomenon. This observation may suggest that the PABP2 gene could interfere in the posttranscriptional regulation of genes involved in mitochondrial function...
  75. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
    Silvia Bianchi
    Dept Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy
    Hum Genet 122:558. 2007
  76. ncbi request reprint Evidence of early cortical atrophy in MS: relevance to white matter changes and disability
    N De Stefano
    Institute of Neurological Sciences, University of Siena, Italy
    Neurology 60:1157-62. 2003
    ....
  77. ncbi request reprint Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case
    A Orrico
    Department of Molecular Biology, Medical Genetics, Universita degli Studi di Siena, Italy
    Am J Med Genet 78:341-4. 1998
    ..This case of mosaicism, as other similar cases previously reported, suggests that the normal-length allele can derive from a deletion during the same early stage of development in which the full mutation expansion also arose...
  78. ncbi request reprint A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course
    A Malandrini
    Department of Neurological and Behavioural Sciences, Neuroscience Section, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Clin Forensic Med 11:208-10. 2004
    ..We hypothesize an infective agent, affecting the heart and thalamus, as the cause of this syndrome. Diaschisis due to the strategic anatomical position of the thalamus may have been responsible for coma state and death...
  79. ncbi request reprint Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation
    Silvia Bianchi
    Dept Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy
    Hum Genet 122:558-9. 2007
  80. ncbi request reprint Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum
    M T Dotti
    University of Siena, Institute of Neurological Sciences, Unit of Neurometabolic Diseases, Italy
    J Neurol 245:723-6. 1998
    ..The unexpected association of the two abnormalities is unlikely to be coincidental and suggests that careful cardiac examination should be considered, even in the absence of clinical manifestations...
  81. ncbi request reprint Diagnostic value of ultrastructural skin biopsy studies in CADASIL
    A Malandrini
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Neurology 68:1430-2. 2007
  82. ncbi request reprint Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
    I Meloni
    Genetica Medica, University of Siena, Siena, Italy
    Hum Mutat 18:85. 2001
    ..In the course of the analysis five nonpathogenic variants were found in ABCC6: 1233T>C, 1245G>A, 1838 T>G (V614A), 1890C>G, and 3506+83C>A. Hum Mutat 18:85, 2001...
  83. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy
    Hum Genet 118:534. 2005
  84. ncbi request reprint Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype
    A Malandrini
    Department of Neurological and Behavioural Sciences, University of Siena, 53100 Siena, Italy
    Neurology 65:776. 2005
  85. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy
    Hum Genet 118:535. 2005
  86. ncbi request reprint Gene symbol: Notch3. Disease: CADASIL
    S Bianchi
    Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Italy
    Hum Genet 118:546. 2005
  87. ncbi request reprint A Rett syndrome MECP2 mutation that causes mental retardation in men
    M T Dotti
    Neurometabolic Unit and Center for the Diagnosis Prevention and Therapy of Neuro handicap, University of Siena, Italy
    Neurology 58:226-30. 2002
    ..To characterize the clinical features of a new type of X-linked mental retardation associated with MECP2 mutation in the index family...
  88. doi request reprint Wernicke encephalopathy after gastrointestinal surgery for cancer: causes of diagnostic failure or delay
    A Rufa
    Dipartimento di Scienze Neurologiche Neurochirurgiche e del Comportamento, Universita degli Studi di Siena, Siena, Italy
    Int J Neurosci 121:201-8. 2011
    ..We suggest that prophylaxis with high doses of thiamine should be undertaken in patients with gastrointestinal tumors before surgery...
  89. doi request reprint Evidence of diffuse damage in frontal and occipital cortex in the brain of patients with post-traumatic stress disorder
    Maricla Tavanti
    Psychiatric Division, Department of Neuroscience, University of Siena School of Medicine, Siena, Italy
    Neurol Sci 33:59-68. 2012
    ..Our findings suggest that in drug-naïve PTSD patients with a history of adulthood trauma, brain structural damage is diffuse, with a particular prevalence for the frontal and occipital lobes, and is clinically relevant...
  90. doi request reprint Transient supranuclear paresis of the abduction in viral encephalitis of the brainstem
    Alessandra Rufa
    Dipartimento di Scienze Neurologiche e del Comportamento, Universita di Siena, Viale Bracci 2, 53100, Siena, Italy
    Neurol Sci 31:653-5. 2010
    ..PCR analysis of cerebrospinal fluid showed an enterovirus infection. Spontaneous clinical recovery rapidly occurred 2 days after onset. The brainstem lesion was undetectable at 5-week brain MRI follow-up...
  91. doi request reprint Two cases of hemichorea-hemiballism with nonketotic hyperglycemia: a new point of view
    Carla Battisti
    Operative Unit of Neurology and Neurometabolic Diseases, Policlinico Le Scotte, University of Siena, V le Bracci, 2, 53100, Siena, Italy
    Neurol Sci 30:179-83. 2009
    ..The symptoms persisted in one of them after recovery of normal glycemia. The pathophysiological mechanism of the disease is discussed in the light of clinical and neuroradiological follow-up...
  92. ncbi request reprint A case of dystonia with onset during pregnancy
    Rosaria Buccoliero
    Department of Neurological and Behavioural Sciences, University of Siena, Italy
    J Neurol Sci 260:265-6. 2007
    ..She was treated with clonazepam, 0.5 mg three times a day, during the pregnancy. After delivery of a healthy full-term child by caesarean section, she was completely able to turn her neck to either side...
  93. doi request reprint Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
    S Guerrera
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy
    J Neurol Neurosurg Psychiatry 81:1189-93. 2010
    ..To quantify total and regional brain damage in subjects with cerebrotendinous xanthomatosis (CTX) using MR based quantitative measures...
  94. ncbi request reprint Dysautonomic achalasia in two siblings with Sandhoff disease
    Michele Pellegrini
    Digestive Surgery Unit, Department of Surgery and Surgical Specialities, University of Siena, Italy
    J Neurol Sci 241:107-9. 2006
    ..Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal motor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside metabolism...
  95. ncbi request reprint Clinical and molecular characterization of Italian patients affected by Cohen syndrome
    Eleni Katzaki
    Medical Genetics, Department of Molecular Biology, University of Siena, V Le Bracci 2, 53100 Siena, Italy
    J Hum Genet 52:1011-7. 2007
    ..Given the geographical conformation of this region, which is neither geographically or culturally isolated, a recent origin of the mutation could be hypothesized...
  96. doi request reprint Leukoencephalopathy in 21-beta hydroxylase deficiency: report of a family
    Carmen Gaudiano
    Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Siena, Italy
    Brain Dev 32:421-4. 2010
    ..We therefore suggest performing CYP21 gene analysis in subjects with brain MRI evidence of white matter abnormalities that cannot otherwise be explained...
  97. ncbi request reprint Spinocerebellar ataxia type 2 (SCA2) associated with retinal pigmentary degeneration
    Alessandra Rufa
    Unit of Neurometabolic Disease and Research Centre for Diagnosis, Prevention and Therapy of Neurohandicaps, University of Siena, Siena, Italy
    Eur Neurol 47:128-9. 2002
  98. ncbi request reprint Prominent brain axonal damage and functional reorganization in "pure" adrenomyeloneuropathy
    S Marino
    Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    Neurology 69:1261-9. 2007
    ..It remains unclear, however, whether these brain abnormalities reflect centripetal extension of spinal cord long-tract axonopathy or can be the expression of a pathologic process largely involving the brain...
  99. doi request reprint Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA
    E Cardaioli
    Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena, Italy
    J Neurol Sci 272:106-9. 2008
    ..This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA(Leu(CUN)) pathogenic mutation described up to date...
  100. ncbi request reprint MR evidence of structural and metabolic changes in brains of patients with Werner's syndrome
    Nicola De Stefano
    Dept of Neurological and Behavioral Sciences, University of Siena, Siena, Italy
    J Neurol 250:1169-73. 2003
    ..To assess CNS abnormalities in patients with Werner's syndrome (WS) using MR metrics specific for tissue damage...
  101. ncbi request reprint Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study
    N De Stefano
    Neurometabolic Unit, University of Siena, Italy
    J Neurol 248:403-9. 2001
    ..This suggests that, despite the apparently mild clinical course, a severe neurodegenerative process may occur in the white matter of these patients...