Pubblicazioni

The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study  (2018)

Autori:
Fabrizi, Gian Maria; Tamburin, Stefano; Cavallaro, Tiziana; Cabrini, Ilaria; Ferrarini, Moreno; Taioli, Federica; Magrinelli, Francesca; Zanette, Giampietro
Titolo:
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study
Anno:
2018
Tipologia prodotto:
Articolo in Rivista
Tipologia ANVUR:
Articolo su rivista
Lingua:
Inglese
Formato:
A Stampa
Referee:
Nome rivista:
Clinical Neurophysiology
ISSN Rivista:
1388-2457
N° Volume:
129
Numero o Fascicolo:
1
Intervallo pagine:
21-32
Parole chiave:
electrodiagnostic study; genetics; myelin protein zero (MPZ); nerve biopsy; nerve ultrasound; stratification
Breve descrizione dei contenuti:
Objective: Nerve ultrasound (US) data on myelin protein zero (MPZ)-related Charcot-Marie-Tooth disease (CMT) are lacking. To offer a comprehensive perspective on MPZ-related CMTs, we combined nerve US with clinics, electrodiagnosis and histopathology. Methods We recruited 36 patients (12 MPZ mutations), and correlated nerve US to clinical, electrodiagnostic measures, and sural nerve biopsy. Results According to motor nerve conduction velocity (MNCV) criteria, nine patients were categorized as “demyelinating” CMT1B, 17 as “axonal” CMT2I/J, and 10 as dominant “intermediate” CMTDID. Sural nerve biopsy showed hypertrophic de-remyelinating neuropathy with numerous complex onion bulbs in one patient, de-remyelinating neuropathy with scanty/absent onion bulbs in three, axonal neuropathy in two, mixed demyelinating-axonal neuropathy in five. Electrodiagnosis significantly differed in CMT1B vs. CMT2I/J and CMTDID subgroups. CMT1B had slightly enlarged nerve cross sectional area (CSA) especially at proximal upper-limb (UL) sites. CSA was negatively correlated to UL MNCV and not increased at entrapment sites. Major sural nerve pathological patterns were uncorrelated to UL nerve US and MNCV. Conclusions Sural nerve biopsy confirmed the wide pathological spectrum of MPZ-CMT. UL nerve US identified two major patterns corresponding to the CMT1B and CMT2I/J-CMTDID subgroups. Significance Nerve US phenotype of MPZ-CMT diverged from those in other demyelinating peripheral neuropathies and may have diagnostic value. © 2017 International Federation of Clinical Neurophysiology
Pagina Web:
https://doi.org/10.1016/j.clinph.2017.09.117
Id prodotto:
99860
Handle IRIS:
11562/971724
ultima modifica:
15 novembre 2022
Citazione bibliografica:
Fabrizi, Gian Maria; Tamburin, Stefano; Cavallaro, Tiziana; Cabrini, Ilaria; Ferrarini, Moreno; Taioli, Federica; Magrinelli, Francesca; Zanette, Giampietro, The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study «Clinical Neurophysiology» , vol. 129 , n. 12018pp. 21-32

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo IRIS

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