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

  • Primary cerebral toxoplasmosis: a rare case of ventriculitis and hydrocephalus in AIDS.

    Publication Date: 01/05/2005 on Clinical neuropathology
    by Sell M, Klingebiel R, Di Iorio G, Sampaolo S

    We describe the clinical, radiological and neuropathological findings in an adult AIDS patient presenting with ventriculitis and hydrocephalus as the primary manifestations of cerebral toxoplasmosis. Clinical symptoms including fever, headache, changes in mental status and focal neurological deficits were non-specific. Cranial computed tomography showed a subtile ventricular dilatation whereas magnetic resonance imaging disclosed triventricular hydrocephalus due to stenosis of the aqueduct and a periventricular nodular rim of high signal intensity on T2- and proton density-weighted images. This rim also showed a slight enhancement on post-contrast T1-weighted images. Focal intracerebral lesions could not be delineated, neither by neuroimaging nor by pathology. Neuropathological examination showed severe ventriculitis with large ependymal and subependymal necrosis as well as dilatation of the lateral and the third ventricle. The only microorganism demonstrated at histology in the central nervous system was Toxoplasma gondii. We conclude that ventriculitis and hydrocephalus without any focal parenchymal lesion may be the only manifestations of CNS toxoplasmosis. It is important to recognize this unusual form of presentation of cerebral toxoplasmosis in order to perform specific therapy.

  • Peripheral neuropathy in hepatitis-related mixed cryoglobulinemia: electrophysiologic follow-up study.

    Publication Date: 01/03/2005 on Muscle & nerve
    by Ammendola A, Sampaolo S, Ambrosone L, Ammendola E, Ciccone G, Migliaresi S, Di Iorio G
    DOI: 10.1002/mus.20184

    A retrospective study was performed on 27 patients with hepatitis C (HCV)-related mixed cryoglobulinemia (purpura, arthralgia, hepatitis, glomerulonephritis, peripheral neuropathy) to assess peripheral nerve involvement during follow-up of up to 8 years. All patients had the same degree of organ/system involvement initially and were clinically evaluated at least annually. All 27 patients received steroids; 15 also received recombinant interferon-alpha 2b (rIFN-alpha 2b). At first examination, neurological signs and electrodiagnostic findings consistent with peripheral neuropathy were found in 20 (74%) and in 24 (88.8%) patients, respectively. Neurological evaluation and electrodiagnostic data at 3 and 8 years revealed worsening of neuropathy, whereas the other manifestations of mixed cryoglobulinemia (MC) were stable. At the last examination, clinical and electrodiagnostic signs of neuropathy were found in 25 patients (92.5%), occurring in 1 of 3 patients with normal initial findings, and worsened in 8. A more severe neuropathy was observed in 3 (25%) of the patients treated with prednisone alone and in 6 (40%) of the patients additionally treated with rIFN-alpha 2b. Our data confirm that in patients with HCV-related MC, peripheral nerve involvement is frequent, is progressive, and does not seem to benefit by addition of rIFN-alpha 2b to steroid treatment.

  • Peripheral nervous system involvement in Klippel-Trenaunay syndrome.

    Publication Date: 01/01/2005 on Clinical neuropathology
    by Di Iorio G, Sanges G, Sannino V, De Cristofaro M, D'Ambrosio MR, Budillon A, Sampaolo S

    Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation of unknown etiology characterized by cutaneous hemangiomas, venous varicosities and bony and soft tissues hypertrophy usually affecting one limb. Several complex anomalies involving various organs and systems have been described, whereas involvement of the peripheral nervous system has rarely been reported in KTS. We describe the case of a 67-year-old woman with KTS and peripheral neuropathy related to the presence of epineurial microscopic arteriovenous anastomoses (AVA) and endoneurial vascular coils in sural nerve biopsy from both hypertrophic and non-hypertrophic limb. The maintenance of AVA has been proposed to be the cause of the hypertrophy. The observation in our patient of AVA in non-hypertrophic limb contrasts with this hypothesis.

  • Increased cerebrospinal fluid levels of 3,3',5'-triiodothyronine in patients with Alzheimer's disease.

    Publication Date: 01/01/2005 on The Journal of clinical endocrinology and metabolism
    by Sampaolo S, Campos-Barros A, Mazziotti G, Carlomagno S, Sannino V, Amato G, Carella C, Di Iorio G
    DOI: 10.1210/jc.2004-1083

    Cerebrospinal fluid (CSF) levels of rT(3) were evaluated in 21 euthyroid patients with overt Alzheimer's disease (AD) and 18 matched healthy controls. The assessment also included transthyretin and total T(3) and T(4) CSF concentrations. Despite normal circulating thyroid hormone levels, AD subjects showed significantly increased rT(3) levels and an increased rT(3) to T(4) ratio in the face of unchanged CSF total T(4) and transthyretin levels. These results suggest an abnormal intracerebral thyroid hormone metabolism and possibly the occurrence of brain hypothyroidism, either as a secondary consequence of the ongoing process or as a cofactor in the progression of the disease.

  • Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

    Publication Date: 01/02/2004 on Archives of neurology
    by Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R
    DOI: 10.1001/archneur.61.2.269

    A 26-year-old man presented at onset with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and later with a phenotype for MELAS and myoclonic epilepsy and ragged red fiber disease (MELAS/MERRF).

  • Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son.

    Publication Date: 01/11/2003 on Journal of medical genetics
    by Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, Invernizzi F, Zeviani M
  • Viral RNA in nerve tissues of patients with hepatitis C infection and peripheral neuropathy.

    Publication Date: 01/01/2003 on Muscle & nerve
    by De Martino L, Sampaolo S, Tucci C, Ambrosone L, Budillon A, Migliaresi S, Di Iorio G
    DOI: 10.1002/mus.10260

    To assess the presence of viral ribonucleic acid (RNA) in nerve tissues of 15 patients with hepatitis C virus (HCV) infection and peripheral neuropathy with (11) or without (4) mixed cryoglobulinemia, nested reverse transcription-polymerase chain reaction (RT-PCR) was performed. Amplification of HCV-RNA was successful in 7 patients with and 3 without mixed cryoglobulinemia. This study demonstrates that the nested RT-PCR technique is a sensitive method to detect viral RNA in nerve tissue, and offers further evidence that in patients with HCV infection peripheral neuropathy can occur in the absence of mixed cryoglobulinemia.

  • Abnormal accumulation of tTGase products in muscle and erythrocytes of chorea-acanthocytosis patients.

    Publication Date: 01/10/2002 on Journal of neuropathology and experimental neurology
    by Melone MA, Di Fede G, Peluso G, Lus G, Di Iorio G, Sampaolo S, Capasso A, Gentile V, Cotrufo R

    Chorea-Acanthocytosis (CHAC) is an autosomal recessive disease characterized by neurodegeneration and acanthocytosis. Enhanced creatine kinase concentration is a constant feature of the condition. The mechanism underlying CHAC is unknown. However, acanthocytosis and enhanced creatine kinase suggest a protein defect that deranges the membrane-cytoskeleton interface in erythrocytes and muscle, thereby resulting in neurodegeneration. Acanthocytes have been correlated with structural and functional changes in membrane protein band 3--a ubiquitous anion transporter. Residue Gln-30 of band 3 serves as a membrane substrate for tissue transglutaminase (tTGase), which belongs to a class of intra- and extra-cellular Ca2+-dependent cross-linking enzymes found in most vertebrate tissues. In an attempt to cast light on the pathophysiology of CHAC, we used reverse-phase HPLC and immunohistochemistry to evaluate the role of tTGase in this disorder. We found increased amounts of tTGase-derived N(epsilon)-(-gamma-glutamyl)lysine isopeptide cross-links in erythrocytes and muscle from CHAC patients. Furthermore, immunohistochemistry demonstrated abnormal accumulation of tTGase products as well as proteinaceous bodies in CHAC muscles. These findings could explain the mechanisms underlying the increased blood levels of creatine kinase and acanthocytosis, which are the most consistent features of this neurodegenerative disease.

  • A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

    Publication Date: 01/10/2002 on Journal of neurology
    by Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A
    DOI: 10.1007/s00415-002-0849-3

    We describe the clinical, neuropathological and molecular findings from a patient affected with neuronal ceroid lipofuscinosis with a juvenile onset (JNCL). She was a 9-year-old right-handed girl with a normal birth and early developmental milestones. At the age of 4 the early symptoms began. Skin biopsy showed granular osmiophilic deposits (GRODs). Because JNCL with GRODs is caused by mutations in the CNL1 gene, we performed a molecular investigation by direct sequencing of nine exons of the CNL1 gene. This analysis revealed a novel mutation in homozygous form in the exon 7 that caused an aminoacid substitution at codon 222 (Leu --> Pro). Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous form.

  • 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.