Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milano, Italy.
Department of Pathophysiology and Transplantation, "Dino Ferrari" Center, Università degli Studi di Milano, Milan, Italy.
Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):28-34. doi: 10.1080/21678421.2020.1837177.
With the exception of rare, juvenile-onset, autosomal recessive cases, primary lateral sclerosis (PLS) has long been considered an exclusively sporadic motor neuron disease. However, the identification of PLS cases within pedigrees with familial amyotrophic lateral sclerosis (ALS), together with the clinical and neuropathological overlap with other neurodegenerative disease with strong genetic component such as ALS and hereditary spastic paraparesis (HSP), suggest the existence of a genetic component in PLS as well. Here we will review the genetics of juvenile PLS-like syndromes and the contribution of mutations in ALS and HSP-associated genes to PLS pathogenesis.
除了罕见的青少年起病、常染色体隐性遗传病例外，原发性侧索硬化症（PLS）长期以来一直被认为是一种纯粹的散发性运动神经元疾病。然而，在家族性肌萎缩侧索硬化症（ALS）家系中发现 PLS 病例，以及与其他具有强烈遗传成分的神经退行性疾病（如 ALS 和遗传性痉挛性截瘫（HSP））的临床和神经病理学重叠，提示 PLS 也存在遗传成分。在这里，我们将回顾青少年 PLS 样综合征的遗传学以及 ALS 和 HSP 相关基因突变对 PLS 发病机制的贡献。
