Vincenzo Leuzzi

Summary

Affiliation: University of Rome La Sapienza
Country: Italy

Publications

  1. ncbi request reprint Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy
    Neurology 63:1968-70. 2004
  2. ncbi request reprint Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Roma, Italy
    Neurology 68:1320-1. 2007
  3. doi request reprint Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect
    Anna Chilosi
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy
    Neurocase 14:151-61. 2008
  4. doi request reprint Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial
    Luciana Chessa
    Department of Pediatrics and Child Neurology and Psychiatry, Sapienza Universita di Roma, Via dei Sabelli 108, 00185 Roma, Italy
    Orphanet J Rare Dis 9:5. 2014
  5. doi request reprint Inborn errors of creatine metabolism and epilepsy
    Vincenzo Leuzzi
    Division of Child Neurology, Department of Paediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
    Epilepsia 54:217-27. 2013
  6. pmc Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease
    Vincenzo Leuzzi
    Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Universita di Roma, Via dei Sabelli 108, 00185, Roma, Italy
    JIMD Rep 7:67-75. 2013
  7. pmc In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism
    Claudia Carducci
    Department of Experimental Medicine, La Sapienza Universita di Roma, Viale del Policlinico 155, Rome 00161, Italy
    BMC Neurosci 13:41. 2012
  8. ncbi request reprint A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme
    Vincenzo Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza Via dei Sabelli 108, 00185 Rome, Italy
    Mol Genet Metab 87:88-90. 2006
  9. doi request reprint Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts
    Vincenzo Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, 00185 Rome, Italy
    Anal Biochem 375:153-5. 2008
  10. ncbi request reprint The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, University of Rome La Sapienza, Rome, Italy
    J Inherit Metab Dis 30:209-16. 2007

Detail Information

Publications44

  1. ncbi request reprint Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy
    Neurology 63:1968-70. 2004
    ..Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF...
  2. ncbi request reprint Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Roma, Italy
    Neurology 68:1320-1. 2007
  3. doi request reprint Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect
    Anna Chilosi
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy
    Neurocase 14:151-61. 2008
    ..The results suggest that children with CT1 disorder show some residual adaptive plasticity for certain functions even at quite an advanced age. Further trials with higher L-arginine dosages and more protracted treatment are encouraged...
  4. doi request reprint Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial
    Luciana Chessa
    Department of Pediatrics and Child Neurology and Psychiatry, Sapienza Universita di Roma, Via dei Sabelli 108, 00185 Roma, Italy
    Orphanet J Rare Dis 9:5. 2014
    ..Aims of the study were: the assessment of the effect of EryDex in improving neurological symptoms and adaptive behaviour of AT patients; the safety and tolerability of the therapy...
  5. doi request reprint Inborn errors of creatine metabolism and epilepsy
    Vincenzo Leuzzi
    Division of Child Neurology, Department of Paediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
    Epilepsia 54:217-27. 2013
    ....
  6. pmc Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease
    Vincenzo Leuzzi
    Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Universita di Roma, Via dei Sabelli 108, 00185, Roma, Italy
    JIMD Rep 7:67-75. 2013
    ..Conclusions. Pterins in urine and Phe loading test are non-invasive and reliable tools for the biochemical diagnosis of GTP-cyclohydrolase deficiency...
  7. pmc In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism
    Claudia Carducci
    Department of Experimental Medicine, La Sapienza Universita di Roma, Viale del Policlinico 155, Rome 00161, Italy
    BMC Neurosci 13:41. 2012
    ....
  8. ncbi request reprint A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme
    Vincenzo Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza Via dei Sabelli 108, 00185 Rome, Italy
    Mol Genet Metab 87:88-90. 2006
    ..Since this mutation leaves the isoform B of the GAMT enzyme unaffected, the occurrence of biochemical alterations and disease in this subject testifies against the possibility that isoform b had GAMT activity...
  9. doi request reprint Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts
    Vincenzo Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, 00185 Rome, Italy
    Anal Biochem 375:153-5. 2008
    ..The greatest effect was obtained with 10 and 15 mM Arg and 10mM Arg plus Gly. These results encourage an in vivo trial with Cr precursors in CT1 defect...
  10. ncbi request reprint The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, University of Rome La Sapienza, Rome, Italy
    J Inherit Metab Dis 30:209-16. 2007
    ..To gain insights into the nature and pathogenesis of white matter (WM) abnormalities in PKU...
  11. doi request reprint Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
    Clin Genet 77:249-57. 2010
    ..A good correlation was found between genotype and clinical and biochemical phenotype. The occurrence of brain neurotransmitter deficiency and its early correction (by the therapy) are the main prognostic factors in PTPSd...
  12. ncbi request reprint Executive function impairment in early-treated PKU subjects with normal mental development
    V Leuzzi
    Department of Child Neurology and Psychiatry, Universita La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy
    J Inherit Metab Dis 27:115-25. 2004
    ....
  13. ncbi request reprint Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry
    Claudia Carducci
    Dipartimento di Medicina Sperimentale e Patologia, Universita di Roma La Sapienza, Viale del Policlinico 155, 00161 Roma, Italy
    Clin Chim Acta 364:180-7. 2006
    ..The aim of this study was to develop and validate a method for the determination of GAA and Cr in dried blood spot through the use of stable isotope dilution and flow injection analysis (FIA)-ESI-MS/MS...
  14. pmc Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
    Marcella Zollino
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Roma, Italy
    Eur J Hum Genet 19:239-42. 2011
    ....
  15. pmc TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy
    Eur J Hum Genet 21:229-32. 2013
    ....
  16. ncbi request reprint Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies
    Claudia Carducci
    Dipartimento di Medicina Sperimentale e Patologia, Universita degli Studi di Roma La Sapienza, Viale del Policlinico 155, 00161 Rome, Italy
    Clin Chem 48:1772-8. 2002
    ..We developed a strategy for the detection of AGAT and GAMT defects by measurement of guanidinoacetate (GAA) and creatine plus creatinine (Cr+Crn) in biological fluids...
  17. doi request reprint Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype
    Giuseppe Marangi
    Istituto di Genetica Medica, Universita Cattolica del Sacro Cuore, Roma, Italy
    Am J Med Genet A 146:2313-7. 2008
    ..3 microduplications encompassing the Rubinstein-Taybi region result in a recognizable clinical condition, most likely representing a single gene disorder...
  18. ncbi request reprint Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment
    Vincenzo Leuzzi
    Department of Child Neurology and Psychiatry, University La Sapienza, Rome, Italy
    J Child Neurol 17:3S89-97; discussion 3S97. 2002
    ..A potential diagnostic strategy to select patients for evaluation using proton magnetic resonance spectroscopy is proposed in this review...
  19. doi request reprint A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies
    Mario Mastrangelo
    Division of Child Neurology, Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Via dei Sabelli 108, 00185 Roma, Italy
    Eur J Paediatr Neurol 16:179-91. 2012
    ..The aim of the proposed algorithm is to guide through metabolic and molecular-genetic work up and to clarify "where" and "what" to search in biochemical, electroencephalographic and neuroimaging investigations...
  20. doi request reprint Very early pattern of movement disorders in sepiapterin reductase deficiency
    Vincenzo Leuzzi
    From the Department of Pediatrics and Child Neurology and Psychiatry V L, M T G Department of Experimental Medicine Claudia Carducci, M T, Carla Carducci and Department of Molecular Medicine A A, Sapienza Universita di Roma, Rome, Italy
    Neurology 81:2141-2. 2013
    ..3,4) With the aim of contributing to this topic, we report on a new case diagnosed and treated since the first months of life. ..
  21. doi request reprint A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
    Andrea Celato
    Department of Child Neurology and Psychiatry, Sapienza University of Rome, Italy
    Brain Dev 35:675-80. 2013
    ..Thirty-five cases, including our patient, have been described to date. This is the first report concerning a malonic aciduria patient diagnosed on newborn screening and treated in a presymptomatic stage of the disease. ..
  22. doi request reprint A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy
    Teresa Giovanniello
    Department of Experimental Medicine, Sapienza Universita di Roma, Rome, Italy
    J Child Neurol 27:523-5. 2012
    ..836G>T (p.C279F) of maternal origin. Bioinformatics tools have been helpful in predicting the pathogenic role of p.P251L and p.C279F substitutions, while a weak pathogenic effect was ascribed to p.R296Q...
  23. doi request reprint Genes of early-onset epileptic encephalopathies: from genotype to phenotype
    Mario Mastrangelo
    Division of Child Neurology, Department of Pediatrics, Child Neurology, and Psychiatry, Sapienza University of Rome, Rome, Italy
    Pediatr Neurol 46:24-31. 2012
    ....
  24. doi request reprint Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers
    Laura Libernini
    Division of Pediatric Neurology, Department of Pediatrics, Child Neurology and Psychiatry, La Sapienza University of Rome, Rome, Italy
    Neuropediatrics 43:201-8. 2012
    ..We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215-13_215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes...
  25. ncbi request reprint Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria
    V Leuzzi
    Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, Universita La Sapienza, Rome, Italy
    J Inherit Metab Dis 23:563-70. 2000
    ....
  26. pmc Sleep spindle activity is correlated with reading abilities in developmental dyslexia
    Oliviero Bruni
    Center for Pediatric Sleep Disorders, Department of Developmental Neurology and Psychiatry, Sapienza University, Rome, Italy
    Sleep 32:1333-40. 2009
    ..To analyze sleep architecture of children with dyslexia, by means of conventional parameters and EEG spectral analysis and to correlate sleep parameters and EEG spectra with neuropsychological measures...
  27. doi request reprint Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis
    Mario Mastrangelo
    From the Division of Child Neurology M M, P D L, C C, S B, V L, Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome and Neurology IV Neuromuscular Diseases and Neuroimmunology Unit P B, Neurological Institute Foundation Carlo Besta, Milan, Italy
    Neurology 82:e61. 2014
    ..ALS2 gene sequencing detected a homozygous c.2992C>T (p.R998X) substitution in exon 18, and confirmed the diagnosis of infantile ascending hereditary spastic paralysis (IAHSP).(1.) ..
  28. pmc Behavioral and neurochemical characterization of new mouse model of hyperphenylalaninemia
    Tiziana Pascucci
    Dipartimento di Psicologia and Centro Daniel Bovet, Sapienza Universita di Roma, Roma, Italy Fondazione Santa Lucia, IRCCS, Roma, Italy
    PLoS ONE 8:e84697. 2013
    ..In addition, our data identify preFrontal cortex and amygdala as the most affected brain areas and confirm the highest susceptibility of brain serotonin metabolism to mildly elevated blood PHE. ..
  29. ncbi request reprint Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome
    Elisabetta Tabolacci
    Institute of Medical Genetics, Catholic University, Rome, Italy
    Clin Dysmorphol 14:127-32. 2005
    ..Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion...
  30. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...
  31. ncbi request reprint Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
    G S Grieco
    Molecular Neurogenetics, IRCCS C Mondino, Center of Experimental Neurobiology Mondino Tor Vergata S Lucia, Rome, Italy
    Neurology 62:103-6. 2004
    ..The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation...
  32. ncbi request reprint LHON mutations in Italian patients affected by multiple sclerosis
    V Leuzzi
    , University La Sapienza, Roma, Italy
    Acta Neurol Scand 96:145-8. 1997
    ..Present data do not support any contribution of primary LHON mutations to genetically determined susceptibility in MS. There is no evidence that the 15257 mutation has any pathogenetic significance in the Italian population...
  33. ncbi request reprint The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Roma, Rome, Italy
    J Inherit Metab Dis 29:38-46. 2006
    ..Two new mutations, Y387X and G352C, were identified (the former was BH(4)-responsive), and the responsiveness of three already reported mutations (R261Q, D338Y, T92I) was substantiated...
  34. ncbi request reprint Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy
    C Carducci
    Department of Experimental Medicine, University La Sapienza, Rome, Italy
    Hum Genet 87:725-7. 1991
    ....
  35. pmc Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    A Torroni
    Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Rome, Italy
    Am J Hum Genet 60:1107-21. 1997
    ..This finding suggests that one ancient combination of haplogroup J-specific mutations increases both the penetrance of the two primary mutations 11778 and 14484 and the risk of disease expression...
  36. ncbi request reprint Tyrosine hydroxylase deficiency presenting with a biphasic clinical course
    T Giovanniello
    Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy
    Neuropediatrics 38:213-5. 2007
    ..He markedly improved with a very low dosage of L-DOPA/carbidopa, while higher dosages were not tolerated. Two novel mutations (p.G414R/p.L510Q) were detected in the TH gene...
  37. pmc Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
    Miriam Iannicelli
    Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo and CSS Mendel Institute, Viale Regina Margherita 261, Rome, Italy
    Hum Mutat 31:E1319-31. 2010
    ..These exons encode for a region of unknown function in the extracellular domain of meckelin...
  38. doi request reprint Expanding CEP290 mutational spectrum in ciliopathies
    Lorena Travaglini
    CSS Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy
    Am J Med Genet A 149:2173-80. 2009
    ..Although this mechanism does not appear to be frequent, screening for genomic rearrangements should be considered in patients in whom a single CEP290 mutated allele was identified...
  39. ncbi request reprint Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
    V Leuzzi
    Department of Child Neurology and Psychiatry, University of Rome, La Sapienza, Italy
    Neurology 59:1241-3. 2002
    ..In the paternal branch, the grandfather and three relatives had myoclonus-dystonia and resting or postural tremor of limbs. The authors found a missense mutation in the exon 6 of GCH-1 gene (K224R)...
  40. ncbi request reprint Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
    Roberta Battini
    Division of Child Neurology and Psychiatry, IRCCS Stella Maris and University of Pisa, Via dei Giacinti 2, Calambrone Pisa 56018, Italy
    Mol Genet Metab 77:326-31. 2002
    ..The silent nature of this sequence variation is supported by its homozygosity in one AGAT deficient cousin and in one asymptomatic adult, both with normal GAMT activity...
  41. ncbi request reprint Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease
    Roberta Battini
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone Pisa, Italy
    J Pediatr 148:828-30. 2006
    ..We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months...
  42. ncbi request reprint Sleep polygraphy in Angelman syndrome
    Silvia Miano
    Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging IRCCS, Via Conte Ruggero 73, Troina, Italy
    Clin Neurophysiol 115:938-45. 2004
    ....
  43. ncbi request reprint Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation
    Roberta Battini
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy
    Am J Med Genet A 143:1771-4. 2007
    ..In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age...
  44. ncbi request reprint HPLC assay for guanidinoacetate methyltransferase
    Maria Grazia Alessandrì
    Dipartimento di Neuroscienze dell Età Evolutiva, IRCCS Stella Maris, Pisa, Italy
    Anal Biochem 331:189-91. 2004