Regular coffee intake, including in children, would it be likely to improve the symptoms of a very rare neurological disease of genetic origin?

Yes, if we are to believe a study relayed on Wednesday and confirming previous isolated observations.

This new study confirms “the potential of caffeine (…) to treat an orphan neurological disease”, summarizes in a press release the Institut du Cerveau, an organization that participated in this work with Inserm and the hospitals of Paris (AP- HP).

The study, published Tuesday in the neurology journal Movement Disorders, sought to confirm initial isolated data on the effectiveness of coffee against movement disorders, known as "dyskinesia", which are linked to a gene called ADCY5.

Extremely rare but very debilitating, this pathology results in many uncontrolled movements, with no known treatment to date.

"A Beneficial Effect"

But three years ago, French doctors, including neurologists Emmanuel Flamand-Roze and Aurélie Méneret, noticed a possible positive effect of caffeine in a young patient.

This discovery, made by chance – the 11-year-old child had consumed normal coffee and then, inadvertently, decaffeinated, the latter actually serving as a placebo – was however only an isolated case and therefore needed to be confirmed.

To do this, Ms. Méneret and Mr. Flamand-Roze examined data from 30 patients of all ages who had consumed caffeine.

In the end, a large majority (26) of them recorded an improvement in their symptoms after taking caffeine, although three others observed a deterioration instead.

In the majority of patients, including children, caffeine was otherwise well tolerated.

“This study supports the hypothesis (…) of a beneficial effect of caffeine on patients with ADCY5-related dyskinesia,” conclude the authors.

This work was certainly carried out on a limited sample and, above all, retrospectively, therefore without being able to establish a direct link of cause and effect, in particular by comparing the effects of caffeine with a placebo.

But these limits are inherent in the rare and serious nature of the disease in question, as the researchers point out.

“Given the rarity of ADCY5-related dyskinesia and the fact that caffeine is a large part of daily life, it is extremely difficult to conduct a classic randomized study” with placebo, explain the authors.

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