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1 H‐MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy
Author(s) -
Striano Pasquale,
Caranci Ferdinando,
Di Benedetto Raffaella,
Tortora Fabio,
Zara Federico,
Striano Salvatore
Publication year - 2009
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2008.01900.x
Subject(s) - creatine , progressive myoclonus epilepsy , epilepsy , cerebellum , choline , myoclonus , myoclonic epilepsy , neurochemical , central nervous system disease , medicine , cerebellar cortex , pathology , psychology , endocrinology , neuroscience
Summary 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 ( 1 H‐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 1 H‐MRS values in the frontal and occipital cortex differed significantly in the patients compared with the healthy controls. No correlation was detected between 1 H‐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. 1 H‐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.