Genomes and Genes
Affiliation: University of Rome La Sapienza
- Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutationV 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...
- Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiencyV Leuzzi
Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Roma, Italy
Neurology 68:1320-1. 2007
- Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defectAnna 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...
- Inborn errors of creatine metabolism and epilepsyVincenzo Leuzzi
Division of Child Neurology, Department of Paediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy
Epilepsia 54:217-27. 2013....
- Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa diseaseVincenzo 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...
- 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 metabolismClaudia Carducci
Department of Experimental Medicine, La Sapienza Universita di Roma, Viale del Policlinico 155, Rome 00161, Italy
BMC Neurosci 13:41. 2012....
- The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) studyV 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...
- A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzymeVincenzo 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...
- Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblastsVincenzo 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...
- Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiencyV 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...
- Executive function impairment in early-treated PKU subjects with normal mental developmentV 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....
- Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometryClaudia 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...
- Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndromeMarcella Zollino
Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Policlinico A Gemelli, Roma, Italy
Eur J Hum Genet 19:239-42. 2011....
- TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotypeGiuseppe Marangi
Istituto di Genetica Medica, Universita Cattolica Sacro Cuore, Largo Francesco Vito 1, Rome, Italy
Eur J Hum Genet 21:229-32. 2013....
- Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficienciesClaudia 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...
- Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotypeGiuseppe 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...
- Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatmentVincenzo 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...
- A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathiesMario 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...
- A new case of malonic aciduria with a presymptomatic diagnosis and an early treatmentAndrea 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. ..
- A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathyTeresa 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...
- Genes of early-onset epileptic encephalopathies: from genotype to phenotypeMario Mastrangelo
Division of Child Neurology, Department of Pediatrics, Child Neurology, and Psychiatry, Sapienza University of Rome, Rome, Italy
Pediatr Neurol 46:24-31. 2012....
- Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothersLaura 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...
- Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuriaV Leuzzi
Dipartimento di Scienze Neurologiche e Psichiatriche dell Età Evolutiva, Universita La Sapienza, Rome, Italy
J Inherit Metab Dis 23:563-70. 2000....
- Sleep spindle activity is correlated with reading abilities in developmental dyslexiaOliviero 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...
- RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF 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%)...
- Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndromeElisabetta 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...
- Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay typeG 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...
- The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiencyV 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...
- LHON mutations in Italian patients affected by multiple sclerosisV 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...
- Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathiesMiriam 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...
- Expanding CEP290 mutational spectrum in ciliopathiesLorena 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...
- Tyrosine hydroxylase deficiency presenting with a biphasic clinical courseT 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...
- Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathyC Carducci
Department of Experimental Medicine, University La Sapienza, Rome, Italy
Hum Genet 87:725-7. 1991....
- 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 14484A 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...
- Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndromeV 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)...
- Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the diseaseRoberta 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...
- Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigreeRoberta 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...
- Sleep polygraphy in Angelman syndromeSilvia 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....
- HPLC assay for guanidinoacetate methyltransferaseMaria Grazia Alessandrì
Dipartimento di Neuroscienze dell Età Evolutiva, IRCCS Stella Maris, Pisa, Italy
Anal Biochem 331:189-91. 2004
- Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutationRoberta 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...