Praline Julien, Guennoc Anne-Marie, Vourc'h Patrick, De Toffol Bertrand, Corcia Philippe
ALS Centre, Tours, France.
Amyotroph Lateral Scler. 2010;11(1-2):154-6. doi: 10.3109/17482960802483038.
Primary lateral sclerosis (PLS) is considered to be a specific sporadic motor neuron disorder, but some reports have shown familial history of motor neuron disorders that may comprise PLS cases. Here we report a novel pedigree highlighting an intrafamilial occurrence of PLS and amyotrophic lateral sclerosis (ALS) cases. These observations strengthen the hypothesis that PLS may represent an ALS phenotype with a long evolution and strongly suggest the involvement of common genetic factors that can lead to upper and lower motor neuron death.
原发性侧索硬化症（PLS）被认为是一种特定的散发性运动神经元疾病，但一些报告显示，运动神经元疾病的家族史中可能包括PLS病例。在此，我们报告了一个新的家系，突出了家族内PLS和肌萎缩侧索硬化症（ALS）病例的发生情况。这些观察结果强化了以下假说：PLS可能代表一种具有长期病程的ALS表型，并强烈提示存在可导致上下运动神经元死亡的共同遗传因素。
