Publications by authors named "Ruth J Bland"
Article Synopsis
- - This study explores the potential causes of small-fiber peripheral neuropathies (SFN) by examining serum autoantibodies in patients whose neuropathy has no identified cause.
- - Out of 155 patients tested, 48% had serum antibodies, with a notable 37% showing immunoglobulin M (IgM) against trisulfated heparan disaccharide (TS-HDS), and 15% showing immunoglobulin G (IgG) against fibroblast growth factor receptor-3 (FGFR-3).
- - The presence of these autoantibodies, particularly IgM vs TS-HDS, suggests an immune-related issue in idiopathic SFN and may indicate acute-onset cases.
Muscle Nerve
January 2018
Article Synopsis
- Mutations in the transthyretin (TTR) gene are linked to polyneuropathy, which causes amyloid deposit formation in the peripheral nervous system.
- A study was conducted on patients with small fiber neuropathy (SFN), assessing them for nerve fiber density through skin biopsies and testing for autonomic neuropathy (AN).
- The findings revealed that 36% of the patients had TTR gene mutations, and among those with both SFN and AN, 68% had specific mutations suggesting a connection between these genetic variants and the neuropathies.
