Chiara Terracciano

Researcher of Neurology

Name Chiara
Surname Terracciano
Institution Policlinico Tor Vergata
Telephone +39 06 209 02 270
Telephone 2 +39 06 725 96 020
Mobile +39 328 265 67 29
Address University of Rome Tor Vergata Via Montpellier 1 00133 Rome, Italy
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Chiara Terracciano


  • Aquaporin 4 expression in human skeletal muscle fiber types.

    Publication Date: 01/05/2018 on Muscle & nerve
    by Vizzaccaro E, Terracciano C, Rastelli E, Massa R
    DOI: 10.1002/mus.26024

    Aquaporins (AQPs) are a family of transmembrane proteins involved in the maintenance of osmotic gradients. AQP4 is abundant in skeletal muscle, where it seems to be associated with glycolytic metabolism. We investigated the pattern of expression of AQP4 in normal human myofibers relative to the main forms of myosin heavy chain (MHC).

  • Neurofibromatous neuropathy: An ultrastructural study.

    Publication Date: 27/03/2018 on Ultrastructural pathology
    by Terracciano C, Pachatz C, Rastelli E, Pastore FS, Melone MAB, Massa R
    DOI: 10.1080/01913123.2018.1454562

    Plexiform neurofibroma is pathognomonic of neurofibromatosis 1 (NF1). An NF1-associated peripheral neuropathy has been described in a small minority of NF1 patients but its histopathological features are poorly characterized. We report the case of a 46-year-old woman presenting with bilateral supraclavicular painful masses without other stigmata of NF1. MRI showed bilateral plexiform lesions extending from cervical roots to the elbows. Nerve conduction studies documented a sensory motor polyneuropathy. Morphometric analysis of sural nerve biopsy showed a preferential loss of large-caliber myelinated fibers with a g ratio of 0.515, and the presence of regeneration clusters. By electron microscopy, marked and diffuse endoneurial fibrosis with an altered relationship between Schwann cells (SC) and collagen fibrils was observed. Moreover both myelinating and non-myelinating SC were characterized by the presence of various cell degradation products. These changes suggest that, in neurofibromatous neuropathy, a widespread axonal atrophy and degeneration take place independently on the presence of tumoral infiltration, possibly due to an impairment in SC-axon cross talk. In this case, the coexistence of plexiform neurofibromas with a peripheral neuropathy strongly suggests a diagnosis of NF1 even without fulfillment of clinical criteria. We propose that in the presence of plexiform neurofibromas, electrophysiological studies should be performed also in asymptomatic patients, in order to detect the existence of a subclinical neuropathy.

  • Successful long-term therapy with flecainide in a family with paramyotonia congenita.

    Publication Date: 27/02/2018 on Journal of neurology, neurosurgery, and psychiatry
    by Terracciano C, Farina O, Esposito T, Lombardi L, Napolitano F, De Blasiis P, Ciccone G, Todisco V, Tuccillo F, Bernardini S, Di Iorio G, Melone MAB, Sampaolo S
    DOI: 10.1136/jnnp-2017-317615
  • Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

    Publication Date: 07/12/2017 on Journal of cellular physiology
    by Pascarella A, Terracciano C, Farina O, Lombardi L, Esposito T, Napolitano F, Franzese G, Panella G, Tuccillo F, la Marca G, Bernardini S, Boffo S, Giordano A, Melone MAB, Di Iorio G, Sampaolo S
    DOI: 10.1002/jcp.26365

    Autosomal recessive Pompe disease is a lysosomal disorder caused by mutations of the acid-α-glucosidase (GAA) gene. Deficiency of GAA enzyme leads to glycogen accumulation and autophagy impairment in cardiac and skeletal muscles, but also in lymphocytes. Since an effective therapy is available, a rapid, sensitive and specific test is crucial to early identify affected subjects. Number of lymphocytes containing PAS-positive vacuoles was evaluated on blood films from 72 consecutive adult patients with hyperckemia and/or muscle weakness, 13 genetically confirmed late-onset-Pompe-disease (LOPD) and 13 of their offspring. GAA activity, measured on dried blood spot (DBS) in all patients inversely correlated with number of PAS-positive lymphocytes. More than 4 PAS-positive lymphocytes were found in 11 out of the 72 patients (6 new diagnosis of LOPD, 3 different glycogen storage myopathies, 1 glucose-6-phosphate dehydrogenase deficiency, 1 caveolinopathy), in all 13 LOPD patients and in the 13 LOPD offspring. These latter resulted to have all a single GAA mutation but low GAA levels. Immunostaining with the autophagy markers LC3 and p62 confirmed the autophagic nature of lymphocytes vacuoles. ROC curve assessment of PAS-positive lymphocytes disclosed 100% of sensitivity and 94% of specificity in recognizing both compound heterozygous and heterozygous GAA carriers. The other myopathies with more than 4 PAS-positive lymphocytes appeared to be all related to impaired autophagy, which seems to be responsible of PAS-positive vacuolated lymphocytes formation. Quantification of PAS-positive lymphocytes in blood films is useful to identify autophagic vacuolar myopathies and should be routinely used as first level test for Pompe disease. This article is protected by copyright. All rights reserved.

  • Nodular morphea in a patient with Steinert disease.

    Publication Date: 08/09/2017 on Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia
    by Campione E, Ventura A, Garofalo V, Torti C, Massa R, Terracciano C, Orlandi A, Bianchi L
    DOI: 10.23736/S0392-0488.17.05624-3
  • Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis.

    Publication Date: 01/02/2017 on Neuromuscular disorders : NMD
    by Campione E, Botta A, Di Prete M, Rastelli E, Gibellini M, Petrucci A, Bernardini S, Novelli G, Bianchi L, Orlandi A, Massa R, Terracciano C
    DOI: 10.1016/j.nmd.2016.11.004

    Skin changes have been described in myotonic dystrophy type 1 (DM1). However, whether and in which way skin is a target of specific disease alterations in DM1 and DM2 has not been yet clarified. This study aims to explore cutaneous features of DM1 and DM2 patients. Skin examination was performed in 60 DM1, 15 DM2, and 103 control, unselected patients by means of dermoscopy. It revealed quantitative and qualitative abnormalities of nevi and typical signs of premature aging in both DM1 and DM2 patients, with a significantly higher frequency of dysplastic nevi, alopecia, xerosis and seborrheic dermatitis. Twenty-eight nevi were excised in DM patients and none showed histological features of melanoma, although 12 of them were diagnosed as dysplastic and the remaining 16 presented histological irregularity in melanin distribution. In DM1 patients, the number of nevi correlated with CTG expansion size, whereas the presence of dysplastic nevi and xerosis inversely correlated with vitamin D levels. DM1 and DM2 patients display a high frequency of skin abnormalities, the most common of which correlate with genotype severity and serum vitamin D levels. Skin examination is highly informative in these patients and reveals features suggestive of premature aging and impaired vitamin D homeostasis.

  • Neuromuscular transmission abnormalities in myotonic dystrophy type 1: A neurophysiological study.

    Publication Date: 01/11/2016 on Clinical neurology and neurosurgery
    by Bombelli F, Lispi L, Porrini SC, Giacanelli M, Terracciano C, Massa R, Petrucci A
    DOI: 10.1016/j.clineuro.2016.08.020

    Weakness and fatigue are frequent symptoms in myotonic dystrophy type 1 (DM1), mainly as a result of muscle impairment. However, neuromuscular junction (NMJ) abnormalities could play an additional role in determining these manifestations. We aimed to document the possible NMJ involvement in DM1.

  • Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.

    Publication Date: 01/04/2016 on Muscle & nerve
    by Massa R, Pozzessere S, Rastelli E, Serra L, Terracciano C, Gibellini M, Bozzali M, Arca M
    DOI: 10.1002/mus.24983

    Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment.

  • Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

    Publication Date: 01/03/2016 on Journal of neurology
    by Bianchi ML, Leoncini E, Masciullo M, Modoni A, Gadalla SM, Massa R, Botta A, Rastelli E, Terracciano C, Antonini G, Bucci E, Petrucci A, Costanzi S, Santoro M, Boccia S, Silvestri G
    DOI: 10.1007/s00415-016-8068-5
  • Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

    Publication Date: 01/03/2016 on Journal of neurology
    by Bianchi ML, Leoncini E, Masciullo M, Modoni A, Gadalla SM, Massa R, Rastelli E, Terracciano C, Antonini G, Bucci E, Petrucci A, Costanzi S, Santoro M, Boccia S, Silvestri G
    DOI: 10.1007/s00415-015-8006-y

    Recent studies documented an increased risk of neoplasm in patients with myotonic dystrophies (DM). Yet, none of these studies evaluated the contribution of common cancer risk factors in such observation. In this study, we included a cohort of patients (n = 255) with an established molecular diagnosis of DM type 1 (DM1), and who receives their treatment in one of the four centers with recognized expertise in neuromuscular disorders in Rome. We estimated the prevalence of benign and malignant tumors, and assessed if lifestyle factors and/or specific disease features would be associated to their occurrence. Overall, 59 benign tumors in 54 patients and 19 malignant tumors in 17 patients were diagnosed. The most common malignant neoplasms were cancers of the skin (31.6%), thyroid (21.0%), ovary (10.5%), and breast (10.5%). Uterine fibroid was the most common benign tumor (37.6%) in women, while pilomatricoma was the most common in men (28.6%). Age at enrollment (OR = 1.02, 95% CI 1.00-1.05), and female gender (OR = 5.71, 95% CI 2.90-11.22) were associated with tumor development in DM1 patients, while thyroid disorders was associated with malignant tumors only in women (OR = 5.12, 95% CI 1.35-19.37). There was no association between tumor development and evaluated lifestyle factors. In conclusion, the lack of association between common cancer risk factors and tumor development in DM1 support a pathogenic link between tumors and DM1 itself, emphasizing the need for a systematic surveillance. Our observation of an association between thyroid diseases in women and cancer development needs confirmation.