caa a22 4500 445810009 CHVBK 20180317145208.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s00415-011-5947-7 doi (NATIONALLICENCE)springer-10.1007/s00415-011-5947-7 Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation [Elektronische Daten] [José Berciano, Jonathan Baets, Elena Gallardo, Magdalena Zimoń, Antonio García, Eduardo López-Laso, Onofre Combarros, Jon Infante, Vincent Timmerman, Albena Jordanova, Peter De Jonghe] Incomplete penetrance has rarely been reported in Charcot-Marie-Tooth disease. Our aim is to describe reduced penetrance in a hereditary motor neuropathy pedigree due to mutation in the transient receptor potential vallinoid 4 (TRPV4) gene. The pedigree comprised two affected members, the proband aged 44years and her affected daughter aged 7 years, and seven additional related subjects, three of whom were subclinical gene mutation carriers aged 9, 40 and 70 years. Clinico-electrophysiological studies, MRI of lower-limb musculature and genetic testing of the TRPV4 were performed. The proband presented with a moderate facio-scapulo-peroneal syndrome, whereas her symptomatic daughter suffered from severe congenital spinal muscular atrophy with arthrogryposis, laryngomalacia, and vocal cord paresis. Electrophysiological evaluation revealed a pure motor axonal neuropathy. In the proband, MRI showed extensive and widespread fatty atrophy of lower-leg musculature, whereas in thigh musculature there was just mild distal fatty infiltration of vastus lateralis. Genetic testing revealed a heterozygous Arg269Cys mutation in the TPRV4 gene. In all three mutation carriers results from clinical and electrophysiological examination, and MRI of foot and lower-leg musculature were normal. We conclude that non-penetrance may be an integral feature of neuropathic syndromes associated with TRPV4 gene mutation. Springer-Verlag, 2011 Charcot-Marie-Tooth disease (CMT) nationallicence CMT2C nationallicence Electrophysiology nationallicence Genetic counselling nationallicence MRI nationallicence Hereditary motor neuropathy nationallicence Penetrance nationallicence TRPV4 gene nationallicence Berciano José Service of Neurology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), 39008, Santander, Spain aut Baets Jonathan Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut Gallardo Elena Service of Radiology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), Santander, Spain aut Zimoń Magdalena Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut García Antonio Service of Clinical Neurophysiology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), Santander, Spain aut López-Laso Eduardo Paediatric Neurology Unit, Department of Paediatrics, University Hospital "Reina Sofía”, University of Córdoba, Córdoba, Spain aut Combarros Onofre Service of Neurology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), 39008, Santander, Spain aut Infante Jon Service of Neurology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), 39008, Santander, Spain aut Timmerman Vincent Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut Jordanova Albena Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut De Jonghe Peter Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut Journal of Neurology Springer-Verlag 258/8(2011-08-01), 1413-1421 0340-5354 258:8<1413 2011 258 415 https://doi.org/10.1007/s00415-011-5947-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-5947-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Berciano José Service of Neurology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), 39008, Santander, Spain aut NATIONALLICENCE 700 1- Baets Jonathan Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Gallardo Elena Service of Radiology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), Santander, Spain aut NATIONALLICENCE 700 1- Zimoń Magdalena Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut NATIONALLICENCE 700 1- García Antonio Service of Clinical Neurophysiology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), Santander, Spain aut NATIONALLICENCE 700 1- López-Laso Eduardo Paediatric Neurology Unit, Department of Paediatrics, University Hospital "Reina Sofía”, University of Córdoba, Córdoba, Spain aut NATIONALLICENCE 700 1- Combarros Onofre Service of Neurology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), 39008, Santander, Spain aut NATIONALLICENCE 700 1- Infante Jon Service of Neurology, University Hospital "Marqués de Valdecilla” (IFIMAV), "Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas” (CIBERNED), University of Cantabria (UC), 39008, Santander, Spain aut NATIONALLICENCE 700 1- Timmerman Vincent Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut NATIONALLICENCE 700 1- Jordanova Albena Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut NATIONALLICENCE 700 1- De Jonghe Peter Neurogenetics Group, Neurogenetics Laboratory, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium aut NATIONALLICENCE 773 0- Journal of Neurology Springer-Verlag 258/8(2011-08-01), 1413-1421 0340-5354 258:8<1413 2011 258 415 Metadata rights reserved 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