Friedreich Ataxia and Related Diabetes: Therapeutic Approach Targeting Mitochondrial Dysfunction

Abstract

This case report discusses a 32-year-old woman with Friedreich ataxia (FA) and suboptimally managed diabetes mellitus (DM), focusing on a treatment strategy aimed at improving mitochondrial function for better glycemic control and symptom management. Her regimen included insulin, a dipeptidyl peptidase-4 (DPP-4) inhibitor, neurotropic vitamins, and mitochondriotropic agents and antioxidants, specifically L-carnitine, coenzyme Q10 (CoQ10), and vitamin E. Imeglimin, a mitochondriotropic antihyperglycemic agent, was also part of her regimen. While glycemic stability initially fluctuated, it reached stability over 3 to 4 months. During the 3-year follow-up, her fasting C-peptide levels decreased from 1.15 ng/mL (SI: 0.38 nmol/L) to 0.5 ng/mL (SI: 0.17 nmol/L) (reference range, 0.78-1.89 ng/mL [SI: 0.26-0.62 nmol/L]), yet her glycemic stability improved significantly, and her International Cooperative Ataxia Rating Scale (ICARS) score improved from 85 to 71 points. These findings highlight the potential of mitochondriotropic agents in the management of FA and related DM, possibly improving insulin sensitivity and neurodegeneration and underscores the need for further studies on the efficacy of specific agents in improving metabolic and neurological outcomes.

Keywords: Friedreich ataxia; antioxidants; diabetes mellitus; glycemic control; mitochondrial dysfunction; mitochondriotropic agents.

Figure 1.

Long-term changes in blood sugar levels during therapy in Friedreich ataxia (FA). Serial measurements of fasting blood sugar (FBS) and postprandial blood sugar (PPBS) illustrating glycemic trends throughout the treatment course in patient with FA.

Figure 2.

Long-term changes in glycated hemoglobin (HbA1c) levels during therapy in FA Longitudinal changes in HbA1c levels depicting the progression of glycemic control during therapy in patient with FA.

Figure 3.

Drawings of the Archimedes spiral to assess kinetic function in FA. (A). Baseline drawing of Archimedes spiral, illustrating impaired kinetic function prior to therapy initiation. (B). Follow-up drawing of the Archimedes spiral, showing improved accuracy and enhanced kinetic function after 3 years of treatment.