Changes in nerve conduction studies predate clinical symptoms onset in early onset Val30Met hereditary ATTR amyloidosis.

Isabel de Castro Bruno MirandaIsabel de CastroIsabel Conceição

Published in: European journal of neurology (2021)

A simple composite neurophysiological sum score can predict the onset of ATTRV30M-PN symptoms by as much as 2 years, highlighting the importance of a systematic follow-up of asymptomatic gene carriers, allowing a timely diagnosis, and management of symptomatic disease.

Keyphrases

early onset
late onset
sleep quality
genome wide
tyrosine kinase
copy number
multiple myeloma
dna methylation
depressive symptoms
transcription factor
peripheral nerve
gene expression