g(m1)-ganglioside and Charcot-Marie-Tooth-Disease

We report the first case of axonal Guillain-Barré syndrome (GBS) associated with axonal Charcot-Marie-Tooth disease (CMT). A 30-year-old Japanese man, who had suffered leg atrophy and foot deformity since childhood, developed acute weakness in his four limbs following an upper respiratory tract infection. Nerve conduction studies showed low compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes in all the nerves tested. Serial studies showed a rapid increase in CMAP amplitude, but no significant change in SNAP, which indicates that the acute event selectively involved motor axons and was superimposed on a baseline motor-sensory axonal neuropathy, probably CMT Type 2. Elevated serum IgG antibodies against GM1 and GM1b, an increase in CSF protein, and rapid clinical and electrophysiological recovery after plasma exchange support the diagnosis of a pure motor axonal form of GBS, acute motor axonal neuropathy. The association may be coincidental, but a particular susceptibility to axonal damage of CMT2 cannot be excluded.

Topics: Adult; Axons; Charcot-Marie-Tooth Disease; Electrophysiology; Evoked Potentials; G(M1) Ganglioside; Gangliosides; Guillain-Barre Syndrome; Humans; Male; Muscles; Neural Conduction; Peripheral Nerves; Reaction Time; Respiratory Tract Infections; Sural Nerve

Fifty three patients were studied to investigate whether autoimmune or inflammatory mechanisms could explain the phenotypic heterogeneity of patients with hereditary motor and sensory neuropathy type 1a (HMSN1a).. Serum samples were examined for antibodies to peripheral nerve myelin protein 22 (PMP22), ganglioside GM1 and cauda equina homogenate, and interleukin-6 (IL-6) and soluble tumour necrosis factor receptor 1 (sTNF R1) concentrations. Serological results were compared with those from patients with other neuropathies (ONPs, n=30) and with normal subjects (n=51).. In the group as a whole, no relation emerged between clinical severity and any immune parameters. Immunohistochemical examination of four sural nerve biopsies did not show significant inflammatory infiltration. In a subset of 12 patients who experienced stepwise progression of disease, there was a trend towards a higher proportion having anti-PMP22 antibodies (33% v 15% of those with gradual disease progression, 3% ONPs, and no normal controls) and complement fixing antibodies to human cauda equina (25% v 5% with gradual progression, 8.6% ONPs, 3.9% normal controls, p=0.07).. Patients with HMSN1a and a stepwise disease progression may have an inflammatory, autoimmune component superimposed on the genetic condition.

Topics: Adult; Aged; Antigens, CD; Autoantibodies; Cauda Equina; Charcot-Marie-Tooth Disease; Chromosomes, Human, Pair 17; Female; G(M1) Ganglioside; Gene Duplication; Humans; Inflammation Mediators; Interleukin-6; Male; Middle Aged; Myelin Proteins; Receptors, Tumor Necrosis Factor; Receptors, Tumor Necrosis Factor, Type I