Autosomal dominant demyelinating Charcot–Marie–Tooth (CMT1) neuropathies

Charcot–Marie–Tooth diseases: an update and some new proposals for the classification

“…A few years afterwards, Jules Dejerine and Jules Sottas described the ‘hypertrophic interstitial neuritis’ (now called Dejerine–Sottas syndrome),13 which corresponds to a hereditary motor and sensory neuropathy (HMSN) characterised by onset in infancy or early childhood. Later on, Gustave Roussy and Gabriel Levy14 described another variant of HMSN with tremor and ataxia, called ‘Roussy–Levy syndrome’ (RLS),15 now considered as a variant of CMT1 (the demyelinating form of CMT),16 further increasing the nosologic complexity of CMT 17. In 1927, Sergeij Dawidenkov presented a clinical classification in which these hereditary neuropathies were classified into 12 categories,18 but it has never been routinely used.…”

“…The majority of CMT subtypes have AD inheritance, although X-linked and AR transmission also exist 16. Most of the CMT diseases are demyelinating (CMT1 for the AD forms and CMT4 for the AR ones), and up to one-third are primarily axonal (type 2: AD-CMT2 and AR-CMT2).…”