Hereditary amyloid polyneuropathy in north west Ireland

Brain. 1987 Oct:110 ( Pt 5):1231-45. doi: 10.1093/brain/110.5.1231.

Abstract

Seven cases of chronic sensorimotor polyneuropathy due to amyloidosis, from 7 different families, are described, in addition to the pathology in a sibling of 1 case. The age of onset ranged from 55 to 72 years. Cardiac involvement, intermittent diarrhoea and syncopal attacks were a frequent occurrence. Motor conduction velocity showed a moderate degree of slowing in 5 of 6 cases studied and marked slowing in 1. Amyloid deposits were seen in nerve biopsy material of all 8 subjects and in rectal mucosa from 1. Immunohistochemical identification revealed AF (transthyretin-derived)--amyloid in all 8 instances, confirming the presence of type 1 familial amyloid neuropathy. The genealogical data supported this analysis. Six of the 8 cases originated in a small area of the north-west coast of County Donegal in Ireland. The remaining cases also originated in the same county.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amyloidosis / complications
  • Amyloidosis / genetics*
  • Amyloidosis / immunology
  • Autonomic Nervous System / physiopathology
  • Female
  • HLA Antigens / analysis
  • HLA Antigens / classification
  • Humans
  • Immunohistochemistry
  • Ireland
  • Male
  • Middle Aged
  • Nervous System Diseases / etiology*
  • Nervous System Diseases / pathology
  • Nervous System Diseases / physiopathology
  • Pedigree

Substances

  • HLA Antigens