Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.

Hiroya NaruseSo OkuboAtsushi SudoJun MitsuiTakashi MikataHiroyuki IshiuraShinichi MorishitaShoji TsujiTatsushi Toda

Published in: Journal of the peripheral nervous system : JPNS (2023)

This study suggests that the clinical spectrum of patients carrying HSPB1 Pro39Leu variants, especially the disease onset, might be broader than expected, and HSPB1 variants should be considered in patients diagnosed with late-onset dHMN. Furthermore, patients with dHMN may have concomitant sensory deficits that should be evaluated using NCSs. This article is protected by copyright. All rights reserved.

Keyphrases

late onset
end stage renal disease
early onset
newly diagnosed
chronic kidney disease
ejection fraction
heat shock protein
traumatic brain injury
peritoneal dialysis
copy number
gene expression
heat shock
patient reported outcomes