Disfunzione cerebellare nella Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME): Studio con 1H-MRI spettroscopia in 3 famiglie con evidenza di "founder effect"

We investigated the neurochemical pattern in patients with Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton MR spectroscopy (¹H-MRS). Methods: eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with eleven age-matched healthy control subjects. Results: patients with BAFME displayed elevated Choline/creatine ratio in the cerebellum cortex (p = 0.01). No ¹H-MRS values in the frontal and occipital cortex significantly differed in the patients compared with the healthy controls. No correlation was detected between ¹H-MRS values and disease duration (ρ = -0,35) as well as myoclonus severity (ρ = -0,48). Conclusions: our findings confirm that cerebellum is the prominent site of dysfunction in BAFME. ¹H-MRS was able to detect brain changes also in patients with recent disease onset and may be a useful tool supporting the diagnosis based on familial and electrophysiologic data.