Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases

Neurol Sci. 2023 Jul;44(7):2551-2554. doi: 10.1007/s10072-023-06763-3. Epub 2023 Mar 24.

Abstract

We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue fasciculation and atrophy, due to a mutation at serine 331 in the SPTLC1 gene. HSAN-1A manifestation causing tongue fasciculation and atrophy have been rarely found. Our report adds to the growing evidence of the existence of an overlap between hereditary neuropathy and motor neuron disease caused by pathogenic p.S331Y variant in SPTLC1 gene.

Keywords: Fasciculation; Hereditary neuropathy; Motor neuron disease; SPTLC1 gene.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Fasciculation
  • Hereditary Sensory and Autonomic Neuropathies* / diagnosis
  • Hereditary Sensory and Autonomic Neuropathies* / genetics
  • Humans
  • Motor Neuron Disease* / complications
  • Motor Neuron Disease* / genetics
  • Mutation / genetics
  • Phenotype
  • Serine C-Palmitoyltransferase / genetics

Substances

  • Serine C-Palmitoyltransferase
  • SPTLC1 protein, human