ALESSANDRA FASOLINO

Dottoressa di ricerca

ciclo: XXXIV



Titolo della tesi: How small fibre pathology influences somatosensory system function in patients with fibromyalgia

Study 1 : Small-fibre pathology has no impact on somatosensory system function in patients with fibromyalgia. A skin biopsy and voltage-gated sodium channel genotyping study. Study 2 : Comparison of Quantitative sensory testing profiling between fibromyalgia patients with and without small-fibre pathology and patients with small-fibre neuropathy. In a first study we aimed to investigate whether small-fibre pathology, a common skin biopsy finding in patients with fibromyalgia, implies clinically important abnormalities of somatosensory system function and verify whether it is associated with voltage-gated sodium channel variants. In 57 consecutively enrolled patients with fibromyalgia we used skin biopsy to distinguish patients with and without small-fibre pathology. In all patients, we assessed somatosensory system function using quantitative sensory testing and laser-evoked potentials and investigated voltage-gated sodium channel genotyping. We then compared these variables in patients with and without small-fibre pathology. We found that clinical measures, quantitative sensory testing, and laser-evoked potential variables did not differ between patients with and without small-fibre pathology. In most patients with small-fibre pathology, quantitative sensory testing and laser-evoked potential variables fell within normative ranges commonly used in clinical practice. Of the 57 patients, one patient without small-fibre pathology and two patients with small-fibre pathology had rare variants of voltage-gated sodium channels, namely SCN11A, SCN9A, and SCN1A variants. The SCN9A variant, found in a patient with small-fibre pathology, was an already profiled gain-of-function mutation, previously reported in small-fibre neuropathy. In a second study, after excluding patients with voltage-gated sodium channel mutations and recruiting other patients with fibromyalgia to increase the sample size, we performed a sensory profile allocation comparing three groups of patients (patients with fibromyalgia with and without small-fibre pathology, and patients with small-fibre neuropathy). In this study we aimed to verify whether patients with fibromyalgia and small-fibre neuropathy share similar sensory phenotypes and we aimed to detect the existence of a common pathological background between patients with FMG associated with small fibre pathology and patients with small fibre neuropathy, by comparing their QST sensory profiles. We enrolled 64 consecutively-diagnosed patients with fibromyalgia and 30 patients with a diagnosis of small-fibre neuropathy relied on BESTA criteria and associated with a definite aetiology (11 patients with amyloidosis, 8 with diabetes and 11 with systemic lupus). We compared the different clinical and quantitative sensory testing measures in patients with fibromyalgia with and without small-fibre pathology, and patients with small-fibre neuropathy. In the three groups of patients we defined four distinct sensory profiles clusters based on quantitative sensory testing in order to do a profile allocation. We found that patients with small-fibre neuropathy were slightly older and with a longer disease duration than fibromyalgia patients with and without small-fibre pathology. The mean variables of quantitative sensory testing of patients with fibromyalgia fell within normative ranges, with the exception of mechanical pain sensitivity. We showed that patients with fibromyalgia and small-fibre neuropathy have distinct sensory phenotypes. Specifically, we observed a predominantly gain of function phenotype in FMG patients with or without SFP, while SFN subgroup had a component of sensory loss. Our findings suggest that small-fibre pathology has a negligible impact on somatosensory system function in fibromyalgia. The genetic analysis suggests that patients with rare small-fibre neuropathy due to voltage-gated sodium channel variants may be misdiagnosed with fibromyalgia. The sensory profile results are in line with the hypothesis that small fibre pathology doesn’t lead to functional sensory deficits and indicate that the small-fibre damage is probably associated with different pathophysiological mechanisms in patients with fibromyalgia and small-fibre neuropathy.

Produzione scientifica

11573/1671088 - 2023 - Small‐fibre damage is associated with distinct sensory phenotypes in patients with fibromyalgia and small‐fibre neuropathy
Leone, Caterina Maria; Galosi, Eleonora; Esposito, Nicoletta; Falco, Pietro; Fasolino, Alessandra; Di Pietro, Giuseppe; Di Stefano, Giulia; Camerota, Filippo; Vollert, Jan; Truini, Andrea - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAIN (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. - - issn: 1090-3801 - wos: WOS:000882004900001 (4) - scopus: 2-s2.0-85143235342 (5)

11573/1654107 - 2022 - Functional and morphometric assessment of small-fibre damage in late-onset hereditary transthyretin amyloidosis with polyneuropathy: the controversial relation between small-fibre-related symptoms and diagnostic test findings
Galosi, Eleonora; Leonardi, Luca; Falco, Pietro; Di Pietro, Giuseppe; Fasolino, Alessandra; Esposito, Nicoletta; Leone, Caterina; Di Stefano, Giulia; Inghilleri, Maurizio; Luigetti, Marco; Antonini, Giovanni; Truini, Andrea - 01a Articolo in rivista
rivista: AMYLOID (Parthenon Publishing:Richmond House, White Cross, South Road LA1 4QX United Kingdom:011 44 1524 585700, EMAIL: journals_parthpub@crcpress.com, INTERNET: http://www.parthpub.com, Fax: 011 44 1524 66882) pp. 1-8 - issn: 1350-6129 - wos: WOS:000853167900001 (1) - scopus: 2-s2.0-85138374090 (1)

11573/1521709 - 2021 - Differential involvement of myelinated and unmyelinated nerve fibers in painful diabetic polyneuropathy
Galosi, E.; Di Pietro, G.; La Cesa, S.; Di Stefano, G.; Leone, C.; Fasolino, A.; Di Lionardo, A.; Leonetti, F.; Buzzetti, R.; Mollica, C.; Cruccu, G.; Truini, A. - 01a Articolo in rivista
rivista: MUSCLE & NERVE (John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551) pp. 68-74 - issn: 0148-639X - wos: WOS:000582971400001 (10) - scopus: 2-s2.0-85094966567 (11)

11573/1558014 - 2021 - Skin biopsy and quantitative sensory assessment in an Italian cohort of ATTRv patients with polyneuropathy and asymptomatic carriers: possible evidence of early non-length dependent denervation
Leonardi, Luca; Galosi, Eleonora; Vanoli, Fiammetta; Fasolino, Alessandra; Di Pietro, Giuseppe; Luigetti, Marco; Sabatelli, Mario; Fionda, Laura; Garibaldi, Matteo; Alfieri, Girolamo; Lauletta, Antonio; Morino, Stefania; Salvetti, Marco; Truini, Andrea; Antonini, Giovanni - 01a Articolo in rivista
rivista: NEUROLOGICAL SCIENCES (-Springer-Verlag Italia -Masson SPA:via Flli Bressan 2, I 20126 Milan Italy:011 39 02 27074286, EMAIL: aboonamenti@masson.it, INTERNET: http://www.masson.it, Fax: 011 39 02 27074210) pp. - - issn: 1590-1874 - wos: WOS:000668063500007 (8) - scopus: 2-s2.0-85109136497 (9)

11573/1405323 - 2020 - The new micropatterned interdigitated electrode for selective assessment of the nociceptive system
Di Stefano, Giulia; Di Lionardo, Andrea; La Cesa, Silvia; Di Pietro, Giuseppe; Fasolino, Alessandra; Galosi, Eleonora; Leone, Caterina; Cruccu, Giorgio; Marinelli, Lucio; Leandri, Massimo; Truini, Andrea - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAIN (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 956-966 - issn: 1090-3801 - wos: WOS:000516721900001 (10) - scopus: 2-s2.0-85080120390 (11)

11573/1453966 - 2020 - Small-fibre pathology has no impact on somatosensory system function in patients with fibromyalgia
Fasolino, A.; Di Stefano, G.; Leone, C.; Galosi, E.; Gioia, C.; Lucchino, B.; Terracciano, A.; Di Franco, M.; Cruccu, G.; Truini, A. - 01a Articolo in rivista
rivista: PAIN (Amsterdam : Elsevier Health Sciences) pp. 2385-2393 - issn: 1872-6623 - wos: WOS:000576018700019 (30) - scopus: 2-s2.0-85091470264 (29)

11573/1405299 - 2020 - Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control
Leone, Caterina Maria; Celletti, Claudia; Gaudiano, Gianfranco; Puglisi, Paola Anna; Fasolino, Alessandra; Cruccu, Giorgio; Camerota, Filippo; Truini, Andrea - 01a Articolo in rivista
rivista: PAIN MEDICINE (Malden, MA) pp. - - issn: 1526-2375 - wos: WOS:000593144400013 (16) - scopus: 2-s2.0-85089453456 (16)

11573/1472769 - 2020 - Painful stimulation increases spontaneous blink rate in healthy subjects
Paparella, G.; Di Stefano, G.; Fasolino, A.; Di Pietro, G.; Colella, D.; Truini, A.; Cruccu, G.; Berardelli, A.; Bologna, M. - 01a Articolo in rivista
rivista: SCIENTIFIC REPORTS (London: Springer Nature London: Nature Publishing Group) pp. - - issn: 2045-2322 - wos: WOS:000604516000034 (6) - scopus: 2-s2.0-85096123502 (5)

11573/1261312 - 2019 - Cooling the skin for assessing small-fibre function
Leone, C; Dufour, A; Di Stefano, G; Fasolino, A; Di Lionardo, A; La Cesa, S; Galosi, E; Valeriani, M; Nolano, M; Cruccu, G; Truini, A - 01a Articolo in rivista
rivista: PAIN (Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598) pp. 1967-1975 - issn: 0304-3959 - wos: WOS:000512903900007 (18) - scopus: 2-s2.0-85071707479 (20)

11573/1197843 - 2018 - A pain in the skin. regenerating nerve sprouts are distinctly associated with ongoing burning pain in patients with diabetes
Galosi, E; La Cesa, S; Di Stefano, G; Karlsson, P; Fasolino, A; Leone, C; Biasiotta, A; Cruccu, G; Truini, A - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAIN (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 1727-1734 - issn: 1090-3801 - wos: WOS:000447391300003 (30) - scopus: 2-s2.0-85050584407 (32)

11573/1081026 - 2018 - Skin denervation does not alter cortical potentials to surface concentric electrode stimulation: a comparison with laser evoked potentials and contact heat evoked potentials
La Cesa, S; Di Stefano, G; Leone, Caterina; Pepe, A; Galosi, E; Alu, F; Fasolino, Alessandra; Cruccu, G; Valeriani, M; Truini, A - 01a Articolo in rivista
rivista: EUROPEAN JOURNAL OF PAIN (Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876) pp. 161-169 - issn: 1090-3801 - wos: WOS:000418080700016 (31) - scopus: 2-s2.0-85038419231 (34)

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