1H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy


Address correspondence to Pasquale Striano, MD, PhD, Muscular and Neurodegenerative Diseases Unit, “G. Gaslini” Institute, Genova, and Epilepsy Center, Federico II University, Napoli, Italy. E-mail: pstriano@email.it


Purpose:  To investigate the neurochemical pattern in patients with benign adult familial myoclonic epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton magnetic resonance (MR) spectroscopy (1H-MRS).

Methods:  Eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with 11 age-matched healthy control subjects.

Results:  MR imaging of all the patients and healthy subjects exhibited no structural abnormalities on detailed visual assessment. However, compared with healthy subjects, patients with BAFME displayed elevated choline/creatine ratio in the cerebellar cortex (p = 0.01), whereas there was no significant difference for the other ratios. No 1H-MRS values in the frontal and occipital cortex differed significantly in the patients compared with the healthy controls. No correlation was detected between 1H-MRS values and disease duration (p = −0.35) as well as myoclonus severity (p = −0.48).

Conclusions:  Our findings suggest that the cerebellum is a prominent site of dysfunction in BAFME. The abnormal choline concentrations could reflect changes in the chemical and functional nature of cell membranes. 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. The relationship between cortical tremor and the cerebellum is also discussed.