Apr. 17, 2001 New York, NY - April 9, 2001 - A vitamin-like substance may bring new hope for some patients with a family of uncommon disorders known as hereditary ataxias - brain-and-muscle dysfunctions that disrupt balance and coordination of the arms, legs, and speech.
Six patients with hereditary ataxia improved greatly after taking a substance called coenzyme Q10, or CoQ10, Columbia researchers report. Once wheelchair-bound patients walked again with some assistance, and a woman was able to work outside her home for the first time.
The research, published in the April issue of the journal Neurology, was led by Dr. Salvatore DiMauro, M.D., Lucy G. Moses Professor of Neurology at Columbia University College of Physicians & Surgeons, with participation from North Shore University Hospital, Manhasset, N.Y.; Emory University, Atlanta, Ga.; Children's Hospital of Columbus, Ohio; and Ohio State University.
Dr. DiMauro and his colleagues found that several patients with unexplained forms of hereditary ataxias had severe deficiencies of CoQ10.
CoQ10, also called ubiquinone, is a natural component of the system by which the cells of the body draw energy from oxygen. This explains the weakness and lack of coordination present in many patients.
"We decided to try giving these people CoQ10," Dr. DiMauro said, and "their physical therapist saw a response that was so dramatic that she increased the dose very high. These patients really improved."
One 17-year-old girl came from India for diagnosis and treatment, and she is now able to work outside her home for the first time in her life, in a computer store in New York, Dr. DiMauro said.
A panel of Columbia researchers watched videotapes of three siblings taken at several points before and after receiving the therapies. The researchers agreed that their improvements were too dramatic to be explained by a placebo effect.
The patients took CoQ10 in doses ranging from 300 mg to 3,000 mg. One year after starting treatment they had improved by an average of 25 percent on an ataxia test of balance, speech, and movement. Before starting the therapy, five of the patients couldn't walk; afterward, all could walk with some assistance, such as a rolling walker.
Dr. DiMauro said future research will focus on pinpointing why these patients are CoQ10-deficient. CoQ10 preparations are available in health food stores but are expensive.
Hereditary ataxias are a wide family of disorders with a plethora of causes. Some have known genetic causes, but others are unexplained.
The variants with known genetic causes are probably not candidates for the CoQ10 treatment because their causes have nothing to do with CoQ10, Dr. DiMauro said. But this remains to be confirmed through research.
For the moment, it appears the CoQ10 treatment is best suited for patients with unexplained forms of ataxia. This is a fair number of patients, Dr. DiMauro said; just how many is unknown, as their numbers haven't been ascertained through epidemiological studies.
"This may not be rare," he added. Neurologists "often tell me that there are patients who do not fall into one of the identified genetic categories."
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