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

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. Atypica...

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Bibliographic Details
Published in:Neurological sciences 2015-06, Vol.36 (6), p.1003-1006
Main Authors: Stancanelli, Claudia, Fabrizi, Gian Maria, Ferrarini, Moreno, Cavallaro, Tiziana, Taioli, Federica, Di Leo, Rita, Russo, Massimo, Gentile, Luca, Toscano, Antonio, Vita, Giuseppe, Mazzeo, Anna
Format: Article
Language:English
Subjects:
Adult
Aged
Brief Communication
Charcot-Marie-Tooth Disease - genetics
Charcot-Marie-Tooth Disease - physiopathology
Female
HSP27 Heat-Shock Proteins - genetics
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Pedigree
Phenotype
Psychiatry
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Summary: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.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-014-2050-8