SOD1-related inherited peripheral neuropathies in a Japanese cohort: genetic variants and clinical insights.

ABSTRACT:

Background

Inherited peripheral neuropathies (IPNs) encompass a wide range of disorders affecting the peripheral nervous system, often with complex genetic causes and frequent underdiagnosis. The variants in the superoxide dismutase 1 (SOD1) gene, primarily linked to amyotrophic lateral sclerosis (ALS), have also been associated with peripheral neuropathy. The recent approval of Tofersen, targeting SOD1-related ALS, highlights the importance of precise genetic diagnosis. This study explores the clinical and genetic profiles of SOD1-related IPNs (SOD1-IPN) in a nationwide Japanese IPN cohort.

Methods

Clinical and genetic data were assessed from 1483 Japanese patients with IPN, with a focus on those harboring SOD1 pathogenic variants. The clinical evaluations included age of o

SUBMITTER: Ando M 

PROVIDER: S-EPMC11814053 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature