Article
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.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2023
Lorenzoni Paulo José, Bayer Dafne Luana, Ducci Renata Dal-Prá, Fustes Otto Jesus Hernandez, do Vale Pascoal Rodrigues Paula Raquel, Werneck Lineu Cesar, Kay Cláudia Suemi Kamoi, Scola Rosana Herminia
Abstract excerpt
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...
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