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Publication Detail
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM
  • Publication date:
    05/2013
  • Pagination:
    399, 403
  • Journal:
    Neuromuscul Disord
  • Volume:
    23
  • Issue:
    5
  • Status:
    Published
  • Country:
    England
  • PII:
    S0960-8966(13)00036-9
  • Language:
    eng
  • Keywords:
    Adult, Axons, Charcot-Marie-Tooth Disease, Diagnosis, Differential, Genetic Predisposition to Disease, Humans, Male, Mutation, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Abstract
Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles. We describe a patient with a previous diagnosis of CMT1 who presented with a two year history of rapidly progressive weakness in a single limb, resembling an acquired inflammatory neuropathy. Nerve conduction studies showed an asymmetrical demyelinating neuropathy with conduction block and temporal dispersion. FIG4 sequencing identified a compound heterozygous I41T/K278YfsX5 genotype. CMT4J secondary to FIG4 mutations should be added to the list of inherited neuropathies that need to be considered in suspected cases of inflammatory demyelinating neuropathy, especially if there is a background history of a more slowly progressive neuropathy.
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