[Current issues in hereditary neuropathies].
This short review highlights five studies published in 2012 in the field of Charcot-Marie-Tooth disease (CMT) and transthyretin familial amyloid neuropathies (TTR-FAN). Regarding CMT, an Australian pediatric study shows the high prevalence of impaired speech perception and hearing disability in children with CMT1 or CMT2 with normal or near normal audiometry (Rance et al., 2012). In a second study, the clinical and electrophysiological characteristics of 14 patients with CMT4C due to mutations in SH3TC2 gene are described (Yger et al., 2012). The 3 clinical hallmarks of CMT4C patients in this French cohort are the high prevalence of scoliosis, the proximal motor weakness and the cranial nerves involvement. Concerning TTR-FAN, the first data from French and international registries are reported (Adams et al., 2012; Coelho et al., 2013) and a phase II trial describes the results of taurourodeoxycholic acid and doxycycline treatment (Obici et al., 2012).
Clinique neurologique et centre de référence des maladies rares neuromusculaires, hôpital Roger-Salengro, CHRU de Lille, rue Emile-Laine, 59037 Lille, France. Electronic address: arnaud.lacour@chru-lille.fr.
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D028227:Amyloid Neuropathies, Familial / Q000150:complications / Q000453:epidemiology / Q000235:genetics / Q000266:history; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000266:history; D017322:Clinical Trials, Phase II as Topic; D005602:France / Q000453:epidemiology; D015417:Hereditary Sensory and Motor Neuropathy; D049672:History, 19th Century; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans
Amyloid familial neuropathies; Audition; Charcot-Marie-Tooth; Neuropathies amyloïdes familiales; Registres; Registries