Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards.

ABSTRACT: Inherited peripheral neuropathies (IPNs) encompass a clinically and genetically heterogeneous group of disorders causing length-dependent degeneration of peripheral autonomic, motor and/or sensory nerves. Despite gold-standard diagnostic testing for pathogenic variants in over 100 known associated genes, many patients with IPN remain genetically unsolved. Providing patients with a diagnosis is critical for reducing their 'diagnostic odyssey', improving clinical care, and for informed genetic counselling. The last decade of massively parallel sequencing technologies has seen a rapid increase in the number of newly described IPN-associated gene variants contributing to IPN pathogenesis. However, the scarcity of additional families and functional data supporting variants in potential novel ge

SUBMITTER: Parmar JM 

PROVIDER: S-EPMC11503175 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature