Citrigno L, Magariello A, Pugliese P, Di Palma G, Conforti F L, Petrone A, Muglia M
Institute of Neurological Sciences, National Research Council, 87050, Mangone (Cosenza), Italy.
Neurology Unit, Annunziata Hospital, Cosenza, Italy.
Acta Neurol Belg. 2018 Dec;118(4):643-646. doi: 10.1007/s13760-018-1039-0. Epub 2018 Nov 9.
Kinesins are a family of proteins for anterograde transport of the molecules from the neuronal cell body and their impairment has been widely associated with neurodegeneration of the motor neurons. KIF5A gene causes autosomal dominant spastic paraplegia 10, a neurological disorder characterized by spasticity and weakness of the lower limbs (SPG10). We carried out a screening of KIF5A gene in 50 subjects affected by HSP negative to diagnostic test for SPG4, ATL1 and REEP1. We identified a novel variation p.Ile255Met in a 58-year-old man who developed progressive gait disturbance due to spastic paraparesis complicated by axonal neuropathy.
驱动蛋白是一类负责将分子从神经元细胞体进行顺向运输的蛋白质，其功能受损与运动神经元的神经退行性变广泛相关。KIF5A基因导致常染色体显性遗传性痉挛性截瘫10型，这是一种以双下肢痉挛和无力为特征的神经疾病（SPG10）。我们对50名经SPG4、ATL1和REEP1诊断检测为阴性的遗传性痉挛性截瘫患者进行了KIF5A基因筛查。我们在一名58岁男性中发现了一种新的变异p.Ile255Met，该患者因痉挛性轻截瘫并发轴索性神经病而出现进行性步态障碍。
