Service of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.
Neurol Sci. 2023 Jul;44(7):2551-2554. doi: 10.1007/s10072-023-06763-3. Epub 2023 Mar 24.
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.
我们报告了 1 例早发性遗传性感觉和自主神经病 1A 型（HSAN-1A）患者，由于 SPTLC1 基因丝氨酸 331 处的突变，出现了独特的表型，表现为舌肌束颤和萎缩。HSAN-1A 引起舌肌束颤和萎缩的表现很少见。我们的报告增加了越来越多的证据，证明 SPTLC1 基因致病性 p.S331Y 变异引起的遗传性神经病和运动神经元病之间存在重叠。
