Amyotrophic Lateral Sclerosis (ALS)

According to the EI Escorial criteria, diagnosis of ALS is based upon the evaluation of clinical symptoms and the description of motor neuron failures by electromyography (EMG). This is only helpful during the later stages of the disease when substantial damage has been done to motor neurons. Generally, the diagnosis of the disease is slow. It can take up to 12 months between the appearance of symptoms and the final diagnosis (many conditions replicate symptoms of ALS) and since the patients of ALS are already short on life expectancy, an earlier and accurate diagnosis becomes of paramount importance.

Fortunately, research has led to the identification of a marker that can be used to diagnose disease at an early stage. It’s called phosphorylated neurofilament heavy chain (pNf-H). It is released from damaged neurons and its levels in the cerebrospinal fluid (CSF) are important indicators of ALS. In patients with ALS, the concentration of pNf-H in CSF is significantly increased. Moreover, its concentration correlate with the extent of motor neuron degeneration. Thus because of its great value in diagnosis, differential diagnosis and prognosis of ALS, it is now recommended that pNf-H be included in the routine diagnosis of MNDs