Hereditary amyloid polyneuropathy in north west Ireland.
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.
Staunton
H
H
Richmond Institute of Neurology and Neurosurgery, Richmond Hospital, Dublin, Ireland.
Dervan
P
P
Kale
R
R
Linke
R P
RP
Kelly
P
P
D000368:Aged; D000686:Amyloidosis / Q000150:complications / Q000235:genetics* / Q000276:immunology; D001341:Autonomic Nervous System / Q000503:physiopathology; D005260:Female; D006680:HLA Antigens / Q000032:analysis / Q000145:classification; D006801:Humans; D007150:Immunohistochemistry; D007494:Ireland; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000209:etiology* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree
D006680:HLA Antigens