Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

Claudia Stancanelli; Gian Maria Fabrizi; Moreno Ferrarini; Tiziana Cavallaro; Federica Taioli; Rita Di Leo; Massimo Russo; Luca Gentile; Antonio Toscano; Giuseppe Vita; Anna Mazzeo

doi:10.1007/s10072-014-2050-8

Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

Claudia Stancanelli, Gian Maria Fabrizi, Moreno Ferrarini, Tiziana Cavallaro, Federica Taioli, Rita Di Leo, Massimo Russo, Luca Gentile, Antonio Toscano, Giuseppe Vita, Anna Mazzeo

IRCCS Centro Neurolesi "Bonino Pulejo"

Research output: Contribution to journal › Article › peer-review

Abstract

Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot–Marie–Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype.

Original language	English
Pages (from-to)	1003-1006
Number of pages	4
Journal	Neurological Sciences
Volume	36
Issue number	6
DOIs	https://doi.org/10.1007/s10072-014-2050-8
Publication status	Published - Dec 30 2014

Keywords

CMT2F
Deafness
HSP27
Pyramidal signs

ASJC Scopus subject areas

Clinical Neurology
Psychiatry and Mental health
Dermatology

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10.1007/s10072-014-2050-8

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Charcot–Marie–Tooth 2F : phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. / Stancanelli, Claudia; Fabrizi, Gian Maria; Ferrarini, Moreno; Cavallaro, Tiziana; Taioli, Federica; Di Leo, Rita; Russo, Massimo; Gentile, Luca; Toscano, Antonio; Vita, Giuseppe; Mazzeo, Anna.

In: Neurological Sciences, Vol. 36, No. 6, 30.12.2014, p. 1003-1006.

Research output: Contribution to journal › Article › peer-review

Stancanelli, Claudia ; Fabrizi, Gian Maria ; Ferrarini, Moreno ; Cavallaro, Tiziana ; Taioli, Federica ; Di Leo, Rita ; Russo, Massimo ; Gentile, Luca ; Toscano, Antonio ; Vita, Giuseppe ; Mazzeo, Anna. / Charcot–Marie–Tooth 2F : phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family. In: Neurological Sciences. 2014 ; Vol. 36, No. 6. pp. 1003-1006.

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AU - Ferrarini, Moreno

AU - Cavallaro, Tiziana

AU - Taioli, Federica

AU - Di Leo, Rita

AU - Russo, Massimo

AU - Gentile, Luca

AU - Toscano, Antonio

AU - Vita, Giuseppe

AU - Mazzeo, Anna

PY - 2014/12/30

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AB - Mutations in the small heat-shock protein HSP27 gene are associated with distal hereditary motor neuropathy and with the axonal form of Charcot–Marie–Tooth disease type 2. We present the clinical and electrophysiological data on a multigenerational family with the p.Arg136Leu HSP27 mutation. Atypical features such as deafness and pyramidal signs were present in our cases adding new data to the large spectrum of HSP27-related phenotype.

KW - CMT2F

KW - Deafness

KW - HSP27

KW - Pyramidal signs

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Charcot–Marie–Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family

Abstract

Keywords

ASJC Scopus subject areas

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