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

Translated title of the contribution: 1H MR spectroscopy indicates prominent cerebellar dysfunction in Benign Adult Familial Myoclonic Epilepsy

P. Striano, L. Errichiello, G. Pagano, A. Pascarella, F. Caranci, S. Striano

Research output: Contribution to journalArticle

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.

Original languageItalian
Pages (from-to)121-124
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number138
Publication statusPublished - 2008

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ASJC Scopus subject areas

  • Clinical Neurology

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