@article {Gabriel230, author = {C M Gabriel and N A Gregson and N W Wood and R A C Hughes}, title = {Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a)}, volume = {72}, number = {2}, pages = {230--235}, year = {2002}, doi = {10.1136/jnnp.72.2.230}, publisher = {BMJ Publishing Group Ltd}, abstract = {Objectives: 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). Methods: 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).Results: 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).Conclusions: Patients with HMSN1a and a stepwise disease progression may have an inflammatory, autoimmune component superimposed on the genetic condition.}, issn = {0022-3050}, URL = {https://jnnp.bmj.com/content/72/2/230}, eprint = {https://jnnp.bmj.com/content/72/2/230.full.pdf}, journal = {Journal of Neurology, Neurosurgery \& Psychiatry} }