Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.

Milan ZimmermannNatalie DeiningerSophia WillikensTobias B HaackKathrin Grundmann-HauserBerthold StreubelMelanie SchreiberHolger LercheAlexander Grimm

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2020)

This study highlights the importance of searching for co-occurrence of rare monogenetic neuromuscular diseases, especially in cases in which all clinical features can be readily explained by a single gene defect.

Keyphrases

spinal cord injury
replacement therapy
copy number
functional connectivity
dna methylation
early onset