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Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele
Author(s) -
Askanas Valerie,
King Engel W.,
Alvarez Renate B.,
Frangione Blas,
Ghiso Jorge,
Vidal Ruben
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200004)47:4<544::aid-ana24>3.0.co;2-d
Subject(s) - transthyretin , amyloidosis , pathology , amyloid (mycology) , myositis , cardiac muscle , pathological , cardiac amyloidosis , medicine
Typical of sporadic inclusion body myositis muscle biopsies are vacuolated muscle fibers containing intracellular amyloid deposits and accumulations of “Alzheimer‐characteristic” proteins. There is no muscle blood vessel or cardiac amyloidosis. We report on a 70‐year‐old African‐American man homozygous for the transthyretin Val122Ile allele who has both sporadic inclusion body myositis and cardiac amyloidosis. His unique pathological features included transthyretin immunoreactivity in prominent muscle blood vessel amyloid and congophilic amyloid deposits within vacuolated muscle fibers. Ann Neurol 2000;47:544–549.