MR spectroscopy findings in Lafora disease.
OBJECTIVE
Our aim was to investigate the [(1)H] MR spectroscopy (MRS) findings of Lafora Disease (LD), which is a disabling form of progressive myoclonic epilepsy.


METHODS
Twelve patients diagnosed with LD and 12 control subjects underwent MRS studies with single-voxels of 8 cc obtained in the frontal lobe, pons, and cerebellum. The metabolites and NAA/Cr, NAA/Cho, Cho/Cr, mI/Cr ratios were calculated. Subgroup analysis was also done between 5 patients with EPM2B and 6 patients with EPM2A mutations. Two investigators scored neurological symptom severity.


RESULTS
We found a statistically significant difference of NAA/Cho ratio in LD patients compared with normal controls in cerebellum (P= 0.04). In addition, both myoclonus and ataxia scores showed significant correlation with NAA/Cho ratios in the pons (P= 0.03, P= 0.04) and in the cerebellum (P= 0.04, P= 0.01), respectively.


CONCLUSIONS
We conclude that the cerebellum is the mostly affected structure in LD and there are significant correlations of MRS findings with some clinical parameters. The differences in the group may be related to different genetic mutations besides disease duration and other clinical variables. MRS studies could provide insights about the severity of the involvement of LD.
Altindag
Ebru
E
Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Kara
Batuhan
B
Baykan
Betul
B
Terzibasioglu
Ege
E
Sencer
Serra
S
Onat
Levent
L
Sirvanci
Mustafa
M
D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000494:pharmacology; D001259:Ataxia / Q000188:drug therapy / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics; D002531:Cerebellum / Q000187:drug effects / Q000378:metabolism*; D018450:Disease Progression; D005260:Female; D005625:Frontal Lobe / Q000187:drug effects / Q000378:metabolism*; D006801:Humans; D020192:Lafora Disease / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009207:Myoclonus / Q000188:drug therapy / Q000378:metabolism; D011149:Pons / Q000187:drug effects / Q000378:metabolism*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics; D011522:Protons; D012720:Severity of Illness Index; D044767:Ubiquitin-Protein Ligases; D055815:Young Adult
D000927:Anticonvulsants; D002352:Carrier Proteins; D011522:Protons; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human