1 Chapter 38 Inherited and Neurodegenerative Diseases Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.

2 TABLE 38-1: Genes Associated with Inherited Neuropathies Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.

3 TABLE 38-1: Genes Associated with Inherited Neuropathies Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.

4 FIGURE 38-1: Schematic diagram of biochemical pathways and their interactions in diabetic neuropathy. 1. hexosamine pathway; 2. advanced glycation end-product (AGE) pathway; 3. polyol pathway. Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.

5 FIGURE 38-2: Molecular mimicry in GBS. Campylobacter sialyltransferase activity determines the neuropathy subtype. Campylobacter jejuni with the cstII allele Thr51 have α2,3-activity and produce GM1 and GD1a-like LOS structures, which induce the production of anti- GM1 and anti-GD1a antibodies, resulting in AMAN. C. jejuni strains possessing the Asn51 allele have bifunctional enzyme activity and produce GT1a and GD1c-like LOS structures with terminal disialosyl groups, which induce the production of anti-GQ1b, GD3, and GT1a antibodies, resulting in MFS. AMAN, acute motor axonal neuropathy; C. jejuni, Campylobacter jejuni; GBS, Guillain–Barré syndrome; LOS, lipo-oligosaccharide; MFS, Miller Fisher syndrome. {} = ganglioside mimicking structure of LOS. [Modified from the review by Rinaldi et al., 2008, with permission from Lippincott Williams & Wilkins]. Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.

6 TABLE 38-2: Peripheral Nerve Disorders Associated with Specifi c Antibodies Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved.