Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Department of Neurosciences, Azienda Ospedaliero-Universitaria Di Modena, Modena, Italy.
Neurol Sci. 2022 Feb;43(2):1419-1421. doi: 10.1007/s10072-021-05669-2. Epub 2021 Oct 19.
Mutations in Matrin-3 (MATR3) gene have been described in ALS, suggesting a role for this gene in the disease pathogenesis. While most of MATR3 mutations are point mutations, here we report the first case of ALS associated with duplication in exons 15 and 16. The patient presented with limb-onset ALS and a complex past medical history because of Sjögren syndrome, antiphospholipid antibodies positivity, polyallergies, endometriosis, aldosterone-secreting adrenal cortical adenoma, congenital vesicoureteral reflux, and right breast hypoplasia. We discuss MATR3 effect in ALS and the role of this previously undescribed mutation in this peculiar ALS phenotype associated with systemic autoimmunity involvement.
Matrin-3（MATR3）基因突变已在 ALS 中被描述，表明该基因在疾病发病机制中起作用。虽然大多数 MATR3 突变是点突变，但在这里我们报告了首例与外显子 15 和 16 重复相关的 ALS 病例。该患者表现为肢体起病的 ALS 和复杂的既往病史，包括干燥综合征、抗磷脂抗体阳性、多过敏、子宫内膜异位症、醛固酮分泌性肾上腺皮质腺瘤、先天性膀胱输尿管反流和右乳房发育不良。我们讨论了 MATR3 在 ALS 中的作用以及这种以前未描述的突变在与全身性自身免疫参与相关的这种特殊 ALS 表型中的作用。
