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 journalArticlepeer-review

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 contribution1H MR spectroscopy indicates prominent cerebellar dysfunction in Benign Adult Familial Myoclonic Epilepsy
Original languageItalian
Pages (from-to)121-124
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number138
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Clinical Neurology

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