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Updated: Oct 26, 2025
Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
Monika Turčanová Koprušáková1, Milan Grofik1, Ema Kantorová1
1Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 036 01, Martin, Slovak Republic.
Background:
Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF).
Case Presentation:
We report a 56-year-old patient with an atypical clinical phenotype of CMT1C, which started as progressive weakness of a single upper limb resembling acquired inflammatory neuropathy. Nerve conduction studies (NCS) and temporarily limited and partial effects of immunotherapy supported the diagnosis of inflammatory neuropathy. Significant progression of polyneuropathy, despite intensive long-lasting immunotherapy, together with repeatedly negative auxiliary investigations (CSF, MRI and antibodies) and genetic testing results finally led to the diagnosis of CMT1C neuropathy.
Conclusions:
CMT1C should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy.
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