(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy.
OBJECTIVE
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.
Striano
Pasquale
P
Department of Neurological Sciences, Epilepsy Center, Federico II University, Napoli, Italy. pstriano@email.it
Caranci
Ferdinando
F
Di Benedetto
Raffaella
R
Tortora
Fabio
F
Zara
Federico
F
Striano
Salvatore
S
D000293:Adolescent; D000328:Adult; D001224:Aspartic Acid / Q000378:metabolism; D001931:Brain Mapping; D016022:Case-Control Studies; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D002889:Chromosomes, Human, Pair 2; D003401:Creatine / Q000378:metabolism; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D011522:Protons; D055815:Young Adult
D011522:Protons; D001224:Aspartic Acid; D003401:Creatine; D002794:Choline