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

Abstract:

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.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Striano P,Caranci F,Di Benedetto R,Tortora F,Zara F,Striano S

doi

10.1111/j.1528-1167.2008.01900.x

subject

Has Abstract

pub_date

2009-06-01 00:00:00

pages

1491-7

issue

6

eissn

0013-9580

issn

1528-1167

pii

EPI1900

journal_volume

50

pub_type

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