Lafora disease: spectroscopy study correlated with neuropsychological findings.
OBJECTIVE
To evaluate the metabolic changes both in grey and white matter in Lafora disease using proton magnetic resonance spectroscopy and to determine the possible correlation with the pattern of cognitive impairment.


METHODS
Five patients with Lafora disease and six healthy controls were included in the study. Patients underwent at the same time-point neuropsychological testing and 1[H]MRS, using PRESS sequences (TE=136 and 25 ms) positioned in the frontal and posterior cingulate gyrus cortexes and in the adjacent frontal and parietal white matter.


RESULTS
Neuropsychological testing showed in all patients a prevalent involvement of performance abilities--with partial sparing of verbal competences--and of executive functions, suggesting a major involvement of frontal areas. Analysis of 1[H]MRS showed a statistically significant reduction in NAA/mI and NAA/Cr in grey matter of patients compared to controls, more significant in frontal regions. In white matter, a significant reduction of NAA/mI ratio was observed both in the frontal and parietal regions, associated with a reduction of the NAA/Cr only in the frontal white matter. NAA/mI was found to be the most statistically significant altered parameter in all regions studied and the only significantly altered ratio in strong correlation with all sets of neuropsychological parameters.


CONCLUSIONS
Our study confirmed the predominant metabolic damage in the frontal cortex, also demonstrating NAA/mI ratio to be the most sensitive parameter to detect metabolic brain changes in Lafora disease; moreover, it evidenced frontal white matter spectroscopic changes. Both spectroscopy values and clinical features of cognitive impairment showed a prevalent frontal impairment.
Neuroradiology Department, Neurological Institute IRCCS Fondazione C.Mondino, via Mondino 2, 27100 Pavia, Italy. anna.pichiecchio@mondino.it
Anna
A
Pichiecchio
Pierangelo
P
Veggiotti
Simonetta
S
Cardinali
Francesca
F
Longaretti
Guy U
GU
Poloni
Carla
C
Uggetti
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D003071:Cognition / Q000502:physiology; D005260:Female; D005625:Frontal Lobe / Q000378:metabolism / Q000473:pathology; D006179:Gyrus Cinguli / Q000378:metabolism / Q000473:pathology; D006801:Humans; D020192:Lafora Disease / Q000378:metabolism* / Q000473:pathology* / Q000523:psychology; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009483:Neuropsychological Tests; D010296:Parietal Lobe / Q000378:metabolism / Q000473:pathology; D011522:Protons; D014706:Verbal Learning / Q000502:physiology
D011522:Protons