title: Clinical monitoring in a patient with Friedreich ataxia and osteogenic sarcoma.
abstract: Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by mutations in the FXN gene that result in abnormally low levels of the mitochondrial protein frataxin. The authors recently used a lateral flow immunoassay to measure frataxin levels in a large cohort of controls, carriers, and patients with the condition. The findings show that frataxin levels do not appreciably change over time and correlate well with GAA(1) repeat length and age of onset; thus, frataxin is a reliable and stable marker for severity of disease. In this article, the authors present a patient diagnosed as having Friedreich ataxia and osteosarcoma who received combined methotrexate, doxorubicin (Adriamycin), and cisplatin (MAP) chemotherapy over 8 months. The authors assessed the effect of treatment on frataxin levels, blood cell counts, and clinical markers of cardiomyopathy. Results of the regimen and the use of MAP chemotherapy for treatment of neoplasms in individuals with Friedreich ataxia are discussed.
authors: Department of Pharmacology, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
authors: Eric C
authors: EC
authors: Deutsch
authors: Lauren A
authors: LA
authors: Seyer
authors: Susan L
authors: SL
authors: Perlman
authors: Jeanette
authors: J
authors: Yu
authors: David R
authors: DR
authors: Lynch
mesh_terms: D000704:Analysis of Variance; D000903:Antibiotics, Antineoplastic; D000970:Antineoplastic Agents / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols; D001773:Blood Cells / Q000187:drug effects / Q000378:metabolism; D001859:Bone Neoplasms / Q000150:complications* / Q000188:drug therapy*; D002945:Cisplatin / Q000627:therapeutic use; D015331:Cohort Studies; D004317:Doxorubicin / Q000627:therapeutic use*; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D033862:Iron-Binding Proteins; D008297:Male; D008727:Methotrexate / Q000627:therapeutic use; D012516:Osteosarcoma / Q000150:complications* / Q000188:drug therapy*; D013997:Time Factors; D055815:Young Adult; D000096923:Frataxin
chemical_list: D000903:Antibiotics, Antineoplastic; D000970:Antineoplastic Agents; D002945:Cisplatin; D004317:Doxorubicin; D007166:Immunosuppressive Agents; D033862:Iron-Binding Proteins; D008727:Methotrexate; D000096923:Frataxin