Neurodegenerative diseases are perceived as diseases of modern time, though their first descriptions and diagnoses can be traced back to the 19th century. As age is one of the main risk factors for these diseases, the constant increase of the life expectancy in the world's population, results in the increasing proportion of patients with neurodegenerative diseases, including the proportion of patients with ALS and FTD. These two are complex neuronal degradation diseases that occur on average between the ages of 50 and 70. Several studies suggest that these two conditions are just extremes of the phenotypic spectrum of one disease. C9orf72, TARDBP, and FUS are the genes most commonly associated with ALS and FTD. Their mutations disrupt the homeostasis of neurons at various levels, primarily by losing the function of RNA regulating.One of the common pathological signs of these two diseases is the formation and accumulation of toxic protein aggregates in neurons that cause their collapse. The consequences are irreversible, thus early diagnosis is key to alleviating or even preventing the onset of ALS and FTD. The development of molecular diagnostics allows for more accurate diagnoses and detection of ALS and FTD at earlier stages.
|