Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype.

ABSTRACT: We describe five families from different regions in Norway with a late-onset autosomal-dominant hereditary polyneuropathy sharing a heterozygous variant in the SLC12A6 gene. Mutations in the same gene have previously been described in infants with autosomal-recessive hereditary motor and sensory neuropathy with corpus callosum agenesis and mental retardation (Andermann syndrome), and in a few case reports describing dominantly acting de novo mutations, most of them with onset in childhood. The phenotypes in our families demonstrated heterogeneity. Some of our patients only had subtle to moderate symptoms and some individuals even no complaints. None had CNS manifestations. Clinical and neurophysiological evaluations revealed a predominant sensory axonal polyneuropathy with slight to modera

SUBMITTER: Loseth S 

PROVIDER: S-EPMC9976957 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature