MTHFR C677T allelic variant is not associated to plasma and cerebrospinal fluid homocysteine in Amyotrophic Lateral Sclerosis

Amiotrophic lateral sclerosis (ALS) is a neurological disorder with a multifactorial etiopathogenesis including excitotoxicity, intracellular calcium increase and mitochondrial damage together with oxidative stress and apoptosis. Overall, the relationship between homocysteine (Hcy), motoneuron death and ALS appears to be complex and still under investigation. It has been already shown that Hcy is elevated in plasma and cerebrospinal fluid (CSF) of ALS patients, although mechanisms of hyperhomocysteinemia have not been elucidated yet. MTHFR C677T variant is the most common genetic determinant of increased homocysteinemia, but no studies regarding the effect of this polymorphism in ALS patients have been conducted. In the present study no association between MTHFR C677T and Hcy concentration in CSF or plasma is reported. Here we showed that CSF and plasma Hcy levels are correlated in ALS patients. MTHFR C677T was not associated with ALS clinical variables such as rate of progression, diagnosis according to El-Escorial/WFN criteria, site of onset, and severity of the disease.