Simone Sampaolo

Professor of Neurology
Director of the CIRN

Name Simone
Surname Sampaolo
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
Simone Sampaolo


  • Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy.

    Publication Date: 01/06/2002 on Neuromuscular disorders : NMD
    by Frisso G, Sampaolo S, Pastore L, Carlomagno A, Calise RM, Di Iorio G, Salvatore F

    Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated. We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy. These data indicate that the simultaneous lack of promoters P and M results in dramatic consequences in skeletal muscle but not in the heart.

  • [Peripheral nervous system involvement in HCV-related mixed cryoglobulinemia]

    Publication Date: 01/01/2001 on Reumatismo
    by Migliaresi S, Di Iorio G, Ammendola A, Ambrosone L, Sanges G, Ugolini G, Sampaolo S, Bravaccio F, Tirri G

    In HCV-related mixed cryoglobulinemia (MC) a peripheral neuropathy (PN) may occur. To evaluate the prevalence and the characteristics of PN, 133 consecutive patients with HCV-MC (117 type II, 16 type III) were studied. Neurologic evaluation was performed according to the guidelines of Italian Group for the Study of Cryoglobulinemias, using a neurological disability score and a neurological symptom score. In 52/133 patients an electrophysiologic study (ENG) of ulnar, peroneal and sural nerves was performed. For 27/52 patients ENG data registered at different times (interval 12-96 months) were available. In 11 patients a sural nerve biopsy was obtained. An overt PN, mostly as sensory asymmetrical or symmetrical nerve impairment, was found in 107/133 patients (80.4%). ENG abnormalities-reduction or absence of sensory and sometimes of motor action potential, normal or slightly impaired nerve conduction velocity, consistent with axonal damage- were detected in 48/52 patients (92.3%). In 26 out of the 27 patients observed at different times an evolution of PN was found. Nerve biopsies showed a prevalent axonal damage, swollen endothelial cells in epi- and perineurial vessels and scarce mononuclear perivascular infiltrates. No leukocytoclastic vasculitis was observed. Immunoglobulins and complement in sub-perineurial vessel wall were detected. CONCLUSIONS: In HCV-MC a PN is frequent. It is mostly a sensory and progressively worsening axonopathy. Different mechanisms may be involved in the pathogenesis of this disorder and a direct role of HCV cannot be excluded.

  • 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.

  • Blood-brain barrier permeability to micromolecules and edema formation in the early phase of incomplete continuous ischemia.

    Publication Date: 01/01/1991 on Acta neuropathologica
    by Sampaolo S, Nakagawa Y, Iannotti F, Cervos-Navarro J, Bonavita V

    The distribution patterns of ionic Lanthanum (La3+; mol. wt. 139) were evaluated after 15, 30 and 60 min of middle cerebral artery occlusion in perfused-fixed rats. Blood-brain barrier (BBB) permeability to Evans blue (EB) and horseradish peroxidase (HRP; mol. wt. 40,000) in vivo was also evaluated. Brain tissue specific gravity was measured. An increase in brain water content was found as early as 30 min following occlusion. HRP and EB extravasation was not observed. La3+ crossed the interendothelial clefts of venules and capillaries at 30 and 60 min and was seen in both extracellular and intracellular brain compartments at 60 min. La3+ extravasation was seen in nonedematous areas bordering the regions of water accumulation. Our findings suggest that the early phase of incomplete continuous ischemia is accompanied by changes in BBB permeability and the interendothelial clefts of venules and capillaries seem to represent one of the early sites of ischemic damage.