Details

Autor(en) / Beteiligte

• Cottenie, Ellen
• Menezes, Manoj P
• Rossor, Alexander M
• Morrow, Jasper M
• Yousry, Tarek A
• Dick, David J
• Anderson, Janice R
• Jaunmuktane, Zane
• Brandner, Sebastian
• Blake, Julian C
• Houlden, Henry
• Reilly, Mary M

Titel

Rapidly progressive asymmetrical weakness in CharcotaMarieaTooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

Ist Teil von

• Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.399-403

Erscheinungsjahr

2013

Link zum Volltext

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• CharcotaMarieaTooth 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.