Published Date: February 8, 2024

Full Text Article

A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P


Authors: Giammarco Milella, Alessandro Amati, Patrizia Lastella, Paola Zanfardino, Vittoria Petruzzella, Stefano Zoccolella


Clin Neurol Neurosurg. 2024 Feb 3;237:108158. doi: 10.1016/j.clineuro.2024.108158. Online ahead of print.

ABSTRACT

Charcot-Marie-Tooth disease type 2P (CMT2P; MIM #614436) is a specific type of axonal neuropathy caused by mutations in the LRSAM1 gene, which is a RING-type E3 ubiquitin ligase. CMT2P can be inherited in two ways: as an autosomal dominant or autosomal recessive trait. In this report, we describe the clinical characteristics of a family with axonal sensory-motor neuropathy caused by a new variant of the LSRAM1 gene, which is associated with early-onset autosomal dominant CMT2P.

PMID: 38330802DOI: 10.1016/j.clineuro.2024.108158