Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients

Inder Singh, Sunil Shakya, Rakesh Kumar Singh, Istaq Ahmad, Vinay Goyal, Garima Shukla, Madakasira Vasantha Padma Srivastava, Mohammed Faruq, Achal Kumar Srivastava, Parkinsonism & Related Disorders, Available online 19 October 2016, ISSN 1353-8020, doi:10.1016/j.parkreldis.2016.10.015.

This is the first case-control study analyzing HFE mutations as a modifier of FRDA phenotypes and its severity. Our study suggests that the presence of p.H63D may be the risk factor for the occurrence of peripheral neuropathy in FRDA patients.

 Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients