caa a22 4500 445807822 CHVBK 20180317145202.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s00415-011-6094-x doi (NATIONALLICENCE)springer-10.1007/s00415-011-6094-x New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication [Elektronische Daten] [José Berciano, Elena Gallardo, Antonio García, Ana Pelayo-Negro, Jon Infante, Onofre Combarros] Forefoot pes cavus is a cardinal sign of Charcot-Marie-Tooth disease (CMT). This review is focused on the pathophysiology of pes cavus in CMT1A duplication, which is the most common subtype of the disease. Assessment of foot deformities in CMT1A, their prevalence and proposed mechanisms, and recent contributions of magnetic resonance imaging studies of lower-leg and foot musculature are revised. Special attention is given to papers on foot deformities at initial stages of the disease. We conclude that pes cavus is an early and age-dependent manifestation of CMT1A duplication. Selective denervation of intrinsic foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism causing reduced ankle flexibility and forefoot cavus deformity. Springer-Verlag, 2011 Charcot-Marie-Tooth disease nationallicence Clawed hallux nationallicence MRI nationallicence Nerve conduction studies nationallicence PMP22 duplication nationallicence Pes cavus nationallicence Toe clawing 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 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 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 Pelayo-Negro Ana 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 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 Journal of Neurology Springer-Verlag 258/9(2011-09-01), 1594-1602 0340-5354 258:9<1594 2011 258 415 https://doi.org/10.1007/s00415-011-6094-x text/html Onlinezugriff via DOI 1 review-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00415-011-6094-x 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- 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- 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- Pelayo-Negro Ana 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- 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 773 0- Journal of Neurology Springer-Verlag 258/9(2011-09-01), 1594-1602 0340-5354 258:9<1594 2011 258 415 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer