Transthyretin amyloidosis presenting with multifocal demyelinating mononeuropathies.
We describe a patient with transthyretin amyloidosis who presented with multifocal mononeuropathies with features of demyelination on nerve conduction studies, a constellation of findings not previously described in amyloid polyneuropathy. Genetic testing revealed a valine122isoleucine mutation in the coding region of the transthyretin gene, a mutation that generally presents with late-onset cardiac amyloidosis. Our patient was also unusual in that she was 34 years old at the time of presentation and had no cardiac involvement.
Briemberg
Hannah R
HR
Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., Boston Massachusetts 02115, USA. briemberg@partners.org
Amato
Anthony A
AA
D000328:Adult; D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics; D003711:Demyelinating Diseases / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D020422:Mononeuropathies / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin