Description of two different phenotypes of FUS-associated Amyotrophic Lateral Sclerosis
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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that primarily affects the motor system. A minority of cases are caused by a genetic variant, with C9orf72, SOD1, TARDBP , and FUS being the most common. Compared with other forms of ALS, FUS -associated ALS is relatively aggressive; however, phenotypic heterogeneity has been reported. We will report two cases of FUS- associated ALS with a very different clinical presentation. These cases highlight the importance of the different factors influencing the phenotypic presentations of ALS. It is essential to recognise specific genotype-phenotype relationships and environmental factors that could change the clinical course of the disease.
