Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin

Samya Chakravorty, Rachel Logan, Molly J. Elson, Rebecca R. Luke & Sumit Verma; Sci Rep 10, 16184 (2020). doi:10.1038/s41598-020-73219-5 

Our single-center study shows genetic sensory polyneuropathies associated with progressive neurodegenerative disorders such as mitochondrial ataxia, Friedreich ataxia, spinocerebellar ataxia type 2, ataxia telangiectasia, spastic paraplegia, giant axonal neuropathy, and fumarate hydratase deficiency.

Expanding the genotype–phenotype correlation of childhood sensory polyneuropathy of genetic origin