Case Study Details Rare Adult-Onset Leigh’s Disease Treatment

Özge Özkaya, PhD avatar

by Özge Özkaya, PhD |

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Researchers at Nizam’s Institute of Medical Sciences in India reported a case of adult-onset Leigh’s disease that showed dramatic improvement following treatment. The case study suggests that late onset Leigh’s disease may be treatable.

The study, “Adult-onset Leigh’s disease: A rare entity,” was published in the Annals of Indian Academy of Neurology. It describes the case of a 37-year-old woman who had long-term abdominal pain and vomiting as well as brain stem syndrome characterized by dizziness, headache, and double vision.

Following neurological examination, brain MRI (magnetic resonance imaging) and blood and urine tests, she was provisionally diagnosed with adult-onset Leigh’s disease. When she was treated with a mitochondrial cocktail, she showed dramatic improvement and continued to be free of symptoms after one year.

“Mitochondrial cocktail” is a mixture of several vitamins and supplements commonly used by people with mitochondrial disease to decrease symptoms of the condition. The mitochondrial cocktail used in the recent study contained vitamin B1, vitamin B2, coenzyme-Q, L-carnitine and L-arginine.

Genetic analyses showed no mutations in the patient’s mitochondrial DNA (mtDNA), which can sometimes cause Leigh’s disease. But the study authors noted: “Recognized mtDNA mutations only account for a small proportion of cases of mitochondrial disease;” some people never get a definitive genetic diagnosis for their condition.

Leigh’s disease is a rare but severe neurodegenerative condition that usually affects babies and is diagnosed by the first birthday. The condition is characterized by progressive loss of the ability to move and results in death within two years, usually caused by respiratory failure. In some rare cases, Leigh’s disease appears in adulthood and progresses more slowly.

The condition can be caused by a mutation in one of more than 30 different genes. Some of the genes are found in the mitochondria and are involved in energy production. The condition can be inherited or result from a new mutation.

Although no proven therapies for Leigh’s disease exist, some case studies and personal observations show improvements following certain therapies.