Giuseppe Di Iorio

Professor of Neurology

Name Giuseppe
Surname Di Iorio
Institution Università degli Studi della Campania Luigi Vanvitelli
Address II Division of Neurology & Center fo Rare Diseases Department of Medical Surgical, Neurological, Metabolic Sciences, and Aging, University of Campania Luigi Vanvitelli, Edificio 10 Via Sergio Pansini, 580131 Naples, Italy


  • A case of progressive frontal lobe syndrome in a sporadic form of Cerebral Amyloid Angiopathy: A singular overlap with fronto-temporal dementia?

    Publication Date: 15/12/2015 on Journal of the neurological sciences
    by Coppola C, Saracino D, Califano F, Barbarulo AM, Di Fede G, Piccoli E, Tagliavini F, Di Iorio G, Rossi G
    DOI: 10.1016/j.jns.2015.08.1533
  • A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.

    Publication Date: 01/12/2015 on Journal of neurochemistry
    by Esposito T, Piluso G, Saracino D, Uccello R, Schettino C, Dato C, Capaldo G, Giugliano T, Varriale B, Paolisso G, Di Iorio G, Melone MA
    DOI: 10.1111/jnc.13396

    Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss-of-function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative regulator of RAS activity. Mutation analysis of NF1 located at 17q11.2 has been hampered by the large size of the gene, the high rate of new mutations, the lack of mutational clustering, and the presence of several homologous loci. To date, about 80% of the reported NF1 mutations are predicted to result in protein truncation, but very few studies have correlated the causative NF1 mutation with its effect at the protein level. We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in a large cohort of unrelated subjects suspected of having NF1, according to the NIH consensus criteria. Western blot analysis was carried out on protein extracts from patients' leukocytes to highlight the possible presence of altered neurofibromin as a result of mutations in NF1. Truncated neurofibromin was identified in 274/336 patients (81%), confirming the usefulness and reproducibility of the proposed diagnostic approach. Our methodology can be routinely applied in the diagnostic setting, thanks to its simplicity and reliability. Combined with molecular approaches, it may increase the accuracy and efficiency of NF1 genetic testing. We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in patients fulfilling the clinical criteria for Neurofibromatosis 1. Western blot analysis identified truncated neurofibromin in 274/336 patients (81%). Our results indicate that the proposed technique is cheap and reliable, and could ideally be performed as a preliminary biochemical screening before molecular analysis of the NF1 gene.

  • A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.

    Publication Date: 01/03/2015 on Neuromuscular disorders : NMD
    by Sampaolo S, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, Di Iorio G
    DOI: 10.1016/j.nmd.2014.11.006

    We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD). APBD is a rare autosomal recessive disorder characterized by a gradually progressive involvement of both the central and peripheral nervous systems caused by the deficiency of the glycogen branching enzyme (GBE1). The two affected siblings, a 64-year-old man and his 67-year-old sister who had complained of urinary urgency and sporadic incontinence and also progressive gait difficulty for 6 and 7 years respectively, had severely impaired deep sensations on direct examination and a moderately severe symmetrical, axonal sensory-motor neuropathy on electrophysiological testing. GBE1 activity was below 25% of the normal rate in leukocytes and sural nerves. The siblings were homozygous for the novel GBE1 mutation p.N541D. All other members of the pedigree are heterozygous and manifest no symptoms, even in the very elderly. The affected siblings showed polyglucosan bodies (PBs) included within non-myelinating Schwann cells and within lymphocyte vesicles, which were positive for the autophagy markers P62 and LC3-II at immunofluorescence microscopy.

  • Symptomatic Heterozygosity due to Definite GAA Mutations in Late-Onset Pompe Disease.

    Publication Date: 01/01/2015 on Journal of neuromuscular diseases
    by Sampaolo S, Farina O, Cipullo F, Napolitano F, Esposito T, Lombardi L, Di Iorio G
  • A Unique Myopathy Syndrome in a Patient Disclosing Clinical, Laboratory, and Genetic Findings of Late-Onset Pompe Disease, Together with a Lack of Dysferlin on Muscle Biopsy.

    Publication Date: 01/01/2015 on Journal of neuromuscular diseases
    by Sampaolo S, Lombardi L, Pascarella A, Picillo E, Farina O, Esposito T, Politano L, Di Iorio G
  • Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection.

    Publication Date: 20/11/2014 on Neuropsychiatric disease and treatment
    by Conforti R, Capasso R, Capaldo G, Dato C, Saracino D, Di Iorio G, Melone MA
    DOI: 10.2147/NDT.S68098

    Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions. We describe the case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections.

  • Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

    Publication Date: 10/10/2013 on Orphanet journal of rare diseases
    by Sampaolo S, Esposito T, Farina O, Formicola D, Diodato D, Gianfrancesco F, Cipullo F, Cremone G, Cirillo M, Del Viscovo L, Toscano A, Angelini C, Di Iorio G
    DOI: 10.1186/1750-1172-8-159

    Glycogenosis type II (GSDII or Pompe disease) is an autosomal recessive disease, often characterized by a progressive accumulation of glycogen within lysosomes caused by a deficiency of α-1,4-glucosidase (GAA; acid maltase), a key enzyme of the glycogen degradation pathway. To date, more than 326 different mutations in the GAA gene have been identified in patients with GSDII but the course of the disease is difficult to be predicted on the basis of molecular genetic changes. Studies on large informative families are advisable to better define how genetics and non genetics factors like exercise and diet may influence the clinical phenotype.

  • Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.

    Publication Date: 21/06/2013 on Orphanet journal of rare diseases
    by Esposito T, Sampaolo S, Limongelli G, Varone A, Formicola D, Diodato D, Farina O, Napolitano F, Pacileo G, Gianfrancesco F, Di Iorio G
    DOI: 10.1186/1750-1172-8-91

    We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s.

  • Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.

    Publication Date: 25/06/2010 on BMC medical genetics
    by Formicola D, Aloia A, Sampaolo S, Farina O, Diodato D, Griffiths LR, Gianfrancesco F, Di Iorio G, Esposito T
    DOI: 10.1186/1471-2350-11-103

    Glutamate is the principal excitatory neurotransmitter in the central nervous system which acts by the activation of either ionotropic (AMPA, NMDA and kainate receptors) or G-protein coupled metabotropic receptors. Glutamate is widely accepted to play a major role in the path physiology of migraine as implicated by data from animal and human studies. Genes involved in synthesis, metabolism and regulation of both glutamate and its receptors could be, therefore, considered as potential candidates for causing/predisposing to migraine when mutated.

  • Inhibition of prostaglandin synthesis reduces the induction of MyoD expression in rat soleus muscle.

    Publication Date: 01/01/2009 on Journal of muscle research and cell motility
    by Monda M, Vicidomini C, Viggiano A, Sampaolo S, Di Iorio G, Viggiano A, Viggiano E, De Luca B
    DOI: 10.1007/s10974-009-9182-0

    MyoD is a myogenic regulatory factor with a critical role in skeletal muscle development and regeneration. As muscle regeneration comes with an inflammatory process, it has been proposed that the inflammatory cells can play an important role in the induction of muscle fibres regeneration. The aim of the present work was to verify if a cyclooxygenase inhibitory drug (ketoprofen) would alter the normal expression of MyoD in a regenerating rat soleus muscle after an over-load lesion. Using immunohistochemical techniques, the numbers of m-cadherin-positive cells, a selective marker of satellite cells, and MyoD-positive cells were evaluated in functionally overloaded rat soleus muscles 4 days after a gastrocnemius tendon cut. The same study was conducted either with four rats injected with ketoprofen (100 mg/kg b.w./day) or with four rats injected with saline solution. The data obtained showed a very large decrease in the number of MyoD positive/m-cadherin positive cells in the ketoprofen injected group compared to the control group. Although further studies are needed to elucidate the sequence of biochemical events that induce a reduction of MyoD expression due to ketoprofen, the results demonstrate that prostaglandin synthesis is required for the induction of MyoD expression and that ketoprofen can affect this expression, with possible adverse effects on muscle regeneration.