Simone Sampaolo

Professor of Neurology

Name Simone
Surname Sampaolo
Institution Università degli Studi della Campania Luigi Vanvitelli
E-Mail simone.sampaolo@unicampania.it
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

Member PUBLICATIONS

  • Rasagiline for sleep disorders in patients with Parkinson's disease: a prospective observational study.

    Publication Date: 29/09/2016 on Neuropsychiatric disease and treatment
    by Schettino C, Dato C, Capaldo G, Sampaolo S, Di Iorio G, Melone MA
    DOI: 10.2147/NDT.S116476

    Rasagiline is a selective, irreversible monoamine oxidase B inhibitor that ameliorates the symptoms of Parkinson's disease (PD) by inhibiting striatal dopamine metabolism. There is also evidence that monoamine oxidase B inhibitors increase melatonin levels in the pineal gland and may have a beneficial effect on sleep disorders, which are a common feature in patients with PD.

  • Sphenoidal pneumosinus dilatans due to anterior skull base meningiomas - CT and MRI aspects: Report of two new cases and literature review.

    Publication Date: 01/08/2016 on The neuroradiology journal
    by Scuotto A, Saracino D, Rotondo M, Izzo A, Urraro F, Cappabianca S, Sampaolo S
    DOI: 10.1177/1971400916648336

    We report on two patients disclosing a pneumosinus dilatans (PSD) and an anterior skull base meningioma. Our findings, together with those from the pertinent literature, support the thought that this infrequent anomaly of paranasal sinuses is a useful clue to suspect a concomitant meningioma. Moreover, hypotheses concerning the pathophysiology of PSD are discussed.

  • 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
  • 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.

  • Autonomic neuropathy in mixed cryoglobulinemia.

    Publication Date: 01/02/2007 on Journal of neurology
    by Ammendola A, Sampaolo S, Migliaresi S, Ambrosone L, Ammendola E, Ciccone G, Di Iorio G
    DOI: 10.1007/s00415-006-0333-6

    A retrospective, cross-sectional study was performed on a series of HCV-related mixed cryoglobulinemia (HCV-MC) patients to assess autonomic neuropathy (AN) and its relation to peripheral neuropathy (PN). Thirty consecutive patients affected by HCV-MC underwent clinical, neurological and electrodiagnostic examinations. Autonomic nervous system (ANS) involvement was assessed by functional cardiovascular tests and sympathetic skin response (SSR) evaluation. Sural nerve biopsy was performed in 10 patients with PN. All patients received steroids, 15 also received recombinant interferon-alpha2b (RIfn-alpha2b). PN occurred in 27 patients (90.0%) and AN in 4 (13.3 %) all with signs of PN. SSR was the autonomic test more frequently altered. Biopsy disclosed axonal degeneration more evident in the 4 patients with AN. Three out of 4 patients with AN received steroids and rIFN-alpha2b and 1 steroids alone. In our study on HCV-MC, it was concluded that AN can occur also without dysautonomic symptoms, SSR appears to be one of the optional tests to use together with dysautonomic tests to identify AN and finally PN and AN do not seem to be positively influenced by addition of rIFN-alpha2b to steroid treatment.