Anandan Somarajan, Rajendran Sajeesh, Sulaiman Ameena, Joy Joesni, Gopal Neethu
Neurology, St. Joseph's Mission Hospital, Anchal, IND.
Neurology, Welcare Hospital, Ernakulam, IND.
Cureus. 2025 Aug 4;17(8):e89357. doi: 10.7759/cureus.89357. eCollection 2025 Aug.
Hereditary peripheral neuropathies may present as isolated neuropathy or as a part of a more complex neurological disorder. Hereditary motor sensory neuropathy is the most common form of hereditary neuropathy. The discovery of an increasing number of causative genes over the years has significantly complicated the classification of hereditary motor sensory neuropathy. Mutations in elastin microfibril interface-located protein 1 (EMILIN1) are linked to a range of connective tissue disorders, involving the vascular system, skeletal structures, and possibly the nervous system. We report a case of axonal hereditary motor sensory neuropathy associated with a mutation in the EMILIN1 gene.
遗传性周围神经病可能表现为孤立性神经病，或作为更复杂神经系统疾病的一部分。遗传性运动感觉神经病是遗传性神经病最常见的形式。多年来，越来越多致病基因的发现使遗传性运动感觉神经病的分类变得极为复杂。弹性微原纤维界面定位蛋白1（EMILIN1）的突变与一系列结缔组织疾病有关，涉及血管系统、骨骼结构，可能还包括神经系统。我们报告一例与EMILIN1基因突变相关的轴索性遗传性运动感觉神经病病例。
