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 new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.

    Publication Date: 01/04/2000 on Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
    by Di Iorio G, Cappa V, Ciccodicola A, Sampaolo S, Ammendola A, Sanges G, Giugliano R, D'Urso M

    We report a 26-year-old Italian man with X-linked Charcot-Marie-Tooth (CMT) disease type 1 (CMT-X1) and a negative family history for neuromuscular diseases. Clinical and electrophysiological examinations of the patient's mother and siblings were normal. Molecular analysis by polymerase chain reaction--single-strand conformation polymorphism (PCR-SSCP) on genomic DNA from the patient and all members of his family revealed a C-to-T transition in codon 8 of exon 2 of the connexin-32 (Cx32) gene on the X chromosome only in the patient. This transition in the 5'-coding region, resulting in a Thr-Ile substitution, is likely to be the cause of CMT phenotype in our patient, and it represents a new de novo mutation of the Cx32 gene.

  • Lack of sodium channel mutation in an Italian family with paramyotonia congenita.

    Publication Date: 22/10/1999 on Neurology
    by Sampaolo S, Puca AA, Nigro V, Cappa V, Sannino V, Sanges G, Bonavita V, Di Iorio G

    To conduct the genotype-phenotype correlation in a family in which several individuals share clinical and electrophysiologic features of paramyotonia congenita (PC).

  • Craniofacial pain followed by scalp necrosis and stroke. An unusual presentation of the primary antiphospholipid syndrome.

    Publication Date: 01/02/1999 on Journal of neurology
    by Sanges G, Sampaolo S, Di Iorio G
  • Identification and characterization of a novel member of the dystrobrevin gene family.

    Publication Date: 20/03/1998 on FEBS letters
    by Puca AA, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, Rossi E, Di Iorio G, Ballabio A, Franco B

    A new member of the dystrobrevin gene family was identified using a bioinformatics approach. Sequence analysis indicates that this gene, named DTN-B, is highly homologous to the rabbit A0, the previously described dystrobrevin (DTN), Torpedo 87 kDa and to the C-terminus of dystrophin. The coiled-coil domain, shown to be the site of interaction between dystrobrevins and dystrophin, is highly conserved. Immunostaining studies indicate that DTN-B and DTN expression is absent in affected muscle fibers from DMD patients and carriers.

  • A comment on: 'Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy' by Paola Strocchi et al., FEBS Letters 359 (1995) 203-205.

    Publication Date: 18/11/1996 on FEBS letters
    by Di Iorio G, Sanges G, Sampaolo S, Bonavita V
  • Familial amyloidotic polyneuropathy: description of an Italian kindred.

    Publication Date: 01/05/1993 on Italian journal of neurological sciences
    by Di Iorio G, Sanges G, Cerracchio A, Sampaolo S, Sannino V, Bonavita V

    Familial amyloidotic polyneuropathy (FAP) is a heterogeneous group of genetic disorders characterized by progressive systemic deposition of extracellular amyloid fibrils, mainly affecting the peripheral nervous system (PNS). These disorders, inherited as an autosomal dominant trait, have frequently been described in various ethnic groups, but have rarely been reported in Italy. A 42 year-old man came to our observation for loss of pain and temperature sense in his legs. Clinical and laboratory data pointed to an amyloidotic polyneuropathy. This led us to discover a large italian kindred in which 19 members were affected by FAP. The diagnosis, established in 8 members on the clinical and laboratory findings, was ana-catamnestic in other 11. In this kindred the onset of the disease ranges from 35 to 50 years of age and the course is progressive and often fatal. The early symptoms are mainly related to autonomic disturbances and to peripheral neuropathy. Cardiac and renal involvement occurs frequently and may be life-threatening.

  • Histopathological heterogeneity and cytopathological similarity of findings in different muscles of two brothers affected by rigid spine syndrome.

    Publication Date: 01/12/1989 on Journal of the neurological sciences
    by Di Iorio G, Lus G, Cutillo C, Cecio A, Cotrufo R

    The pathological changes in muscles biopsied from 2 brothers with rigid spine syndrome are reported. The findings ranged from marked fascicular atrophy and fibrosis to hypotrophy of small groups of fibres and vacuolation in most fibres. The presence of vacuoles and deposits of accumulated material seemed to be common to all the biopsies. These findings, compared with those reported in the literature, confirmed the histopathological heterogeneity of this syndrome but proposed also the hypothesis that similar elementary lesions of muscle fibres can account for the initiation of the pathological process, developing asynchronously in different muscles because of their different activity.

  • Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy.

    Publication Date: 01/04/1987 on American journal of medical genetics
    by Cotrufo R, Melone MA, Monsurro MR, Di Iorio G, Carella C, Moser HW
    DOI: 10.1002/ajmg.1320260410

    We report on two clinically, neurologically normal relatives of a boy affected by adrenoleukodystrophy (ALD); they were found repeatedly to have the biochemical defect of an ALD hemizygote. The assay consisted in the determination of very-long-chain fatty acids in lyophilized and reconstituted plasma. While no evidence of neurologic disease (leukodystrophy or myeloneuropathy) was present in these hemizygotes, adrenocortical insufficiency provoking compensatory high ACTH release was found in both. These findings should be taken into consideration when counseling families in which cases with clinically expressed ALD are represented in several generations.

  • [Unusual histo-cytopathologic findings in a familial case of stiff spine syndrome].

    Publication Date: 01/08/1986 on Acta neurologica
    by Di iorio G, Lus G, De Cristofaro M, Cutillo C, Cecio A, Corona M, Guastafierro VF, Cotrufo R