Essential tremor (ET) is a most common human movement disorder of unknown etiology. Previous reports have shown that the C677T polymorphism of methylenetetrahydrofolate reductase gene has been associated with neurodegenerative disorders. To investigate the role of methylenetetrahydrofolate reductase gene polymorphisms in essential tremor, we analyzed the alleles and genotypes of methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C in a total of 158 unrelated essential tremor patients and compared them with those of 246 unrelated healthy control subjects, using a polymerase chain reaction restriction fragment length polymorphism method. The allele frequency of MTHFR 677T was 35.76% in the essential tremor cases and 30.08% in the controls. We obtained statistically significant results for MTHFR677 and also for MTHFR1298. The MTHFR T677T genotype was overrepresented and was statistically significant. The T677T/A1298A and C677C/C1298C compound genotypes were similarly statistically significant. The C677C/A1298A compound genotype provided protection for essential tremor. In conclusion, the MTHFR 677T, 1298C alleles and MTHFR T677T genotype and T677T/A1298A, and C677C/C1298C compound genotypes are genetic risk factors for essential tremor in Turkey.
2004 Movement Disorder Society.