A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Mario Sabatelli; Marco Luigetti; Francesca Madia; Amelia Conte; Alessandra Del Grande; Giorgio Tasca; Pietro Attilio Tonali; G. M. Fabrizi; M. Ferrarini

doi:doi: 10.1016/j.jns.2010.09.008.

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

Mario Sabatelli, Marco Luigetti, Francesca Madia, Amelia Conte, Alessandra Del Grande, Giorgio Tasca, Pietro Attilio Tonali, G. M. Fabrizi, M. Ferrarini

Risultato della ricerca: Contributo in rivista › Articolo in rivista

36 Citazioni (Scopus)

Abstract

Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype.

Lingua originale	English
pagine (da-a)	114-117
Numero di pagine	4
Rivista	Journal of the Neurological Sciences
Volume	2010
DOI	https://doi.org/doi: 10.1016/j.jns.2010.09.008.
Stato di pubblicazione	Pubblicato - 2010

Keywords

CMT
HSPB1
dHMN

Accesso al documento

doi: 10.1016/j.jns.2010.09.008.

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title = "A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.",

abstract = "Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype.",

keywords = "CMT, HSPB1, dHMN, CMT, HSPB1, dHMN",

author = "Mario Sabatelli and Marco Luigetti and Francesca Madia and Amelia Conte and {Del Grande}, Alessandra and Giorgio Tasca and Tonali, {Pietro Attilio} and Fabrizi, {G. M.} and M. Ferrarini",

year = "2010",

doi = "doi: 10.1016/j.jns.2010.09.008.",

language = "English",

volume = "2010",

pages = "114--117",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "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",

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A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. / Sabatelli, Mario; Luigetti, Marco; Madia, Francesca; Conte, Amelia; Del Grande, Alessandra; Tasca, Giorgio; Tonali, Pietro Attilio; Fabrizi, G. M.; Ferrarini, M.

In: Journal of the Neurological Sciences, Vol. 2010, 2010, pag. 114-117.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.

AU - Sabatelli, Mario

AU - Luigetti, Marco

AU - Madia, Francesca

AU - Conte, Amelia

AU - Del Grande, Alessandra

AU - Tasca, Giorgio

AU - Tonali, Pietro Attilio

AU - Fabrizi, G. M.

AU - Ferrarini, M.

PY - 2010

Y1 - 2010

N2 - Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype.

AB - Mutations in the gene encoding 27-kDa small heat-shock protein B1 (HSPB1) have been reported in association with Charcot-Marie-Tooth disease type 2F or dHMN type II. We describe an Italian patient with wasting and weakness of distal muscles, involving primarily and mostly the lower limbs and later the upper limbs, in which a novel mutation of HSPB1, T180I, was detected. Electrophysiological evaluation disclosed a pure motor axonal neuropathy. Sural nerve biopsy showed a mild reduction of myelinated fibre density. All these findings suggested a CMT2/dHMN phenotype.

KW - CMT

KW - HSPB1

KW - dHMN

KW - CMT

KW - HSPB1

KW - dHMN

UR - http://hdl.handle.net/10807/3536

U2 - doi: 10.1016/j.jns.2010.09.008.

DO - doi: 10.1016/j.jns.2010.09.008.

M3 - Article

VL - 2010

SP - 114

EP - 117

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -