Abstract
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.
Translated title of the contribution | 1H MR spectroscopy indicates prominent cerebellar dysfunction in Benign Adult Familial Myoclonic Epilepsy |
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Original language | Italian |
Pages (from-to) | 121-124 |
Number of pages | 4 |
Journal | Bollettino - Lega Italiana contro l'Epilessia |
Issue number | 138 |
Publication status | Published - 2008 |
ASJC Scopus subject areas
- Clinical Neurology