The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Chiara FiorilloGiovanna CapodiventoAlessandro GeroldiStefano TozzaIsabella MoroniPayam MohasselMatteo CataldiChiara CampanaSimone MorandoChiara PanicucciMarina PedemonteNoemi BrolattiSabrina SiliquiniMonica TraversoSerena BarattoDoriana DebellisStefania MagriValeria PradaEmilia BelloneVincenzo SalpietroSandra DonkervoortKenneth GableSita D GuptaTeresa M DunnCarsten G BönnemannFranco TaroniClaudio BrunoAngelo SchenonePaola MandichLucilla NobbioMaria NolanoPublished in: Neuropathology and applied neurobiology (2022)
Our findings suggest that p.S331 SPTLC1 variants lead to an overlap phenotype combining features of sensory and motor neuropathies, thus proposing a continuum in the spectrum of SPTLC1-related disorders. l-serine supplementation in these patients may be detrimental.