Article

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).
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Langue : FRANCAIS