Amyloid Neuropathy Lecture Part 3

University:
Boston University
Course:
CAS BI 108 | Biology 2
Academic year:

2024
Views:

475

Pages:

7
Author:

Jarrett Richard

ApoA1: Onset/Prognosis Adult onset: 30-40s Slowly progressive Gelsolin: Overview Plasma gelsolin Actin modulating protein Mutations result in abnormal proteolysis Asp187Asn Asp187Tyr Systems Involved: Nerve Vascular Renal Onset: ~40 years of age Involvement of CN VII leads to characteristic drooping of facial muscles, wrinkling, ptosis Ptosis can be corrected surgically Gelsolin: Pathogenesis Deposit around perforating arterioles Amyloid displaces nerve fiber Compressioninduced demyelination and nerve fiber loss with intraneural amyloid Gelsolin: Clinical Progression Lattice corneal dystrophy • Age 20-30 Cranial neuropathy Peripheral neuropathy • Age 40 • Limb involvement • Age >40 Fab AL: Overview Fc AL (amyloid light chain) Ig light chains Produced by plasma cells: λ > κ Sporadic Neuropathy: 30% have associated peripheral neuropathy >25% have associated carpal tunnel syndrome Renal involvement common (~80%) Cardiac involvement (~45%) AL: Pathogenesis Deposit around perforating arterioles Amyloid displaces nerve fiber Compressioninduced demyelination and nerve fiber loss with intraneural amyloid Clinical Progression Sensorimotor Polyneuropathy Slow Progression over Years Sensory Autonomic Motor •Small fibers •Lower extremities •Feet ankles knees •Loss of Pain & Temp > Light Touch •Symmetric Paresthesias •Numbness •Burning pain •Impotence •GI motility alterations: •Diarrhea •Constipation •Bladder retention •Vocal hoarseness •Carpal Tunnel •Distal limb weakness •Great toe extension •Foot drop