title: MR spectroscopy findings in Lafora disease.
abstract: 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.
authors.affiliation: Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Ebru
authors.initials: E
authors.lastname: Altindag
authors.forename: Batuhan
authors.initials: B
authors.lastname: Kara
authors.forename: Betul
authors.initials: B
authors.lastname: Baykan
authors.forename: Ege
authors.initials: E
authors.lastname: Terzibasioglu
authors.forename: Serra
authors.initials: S
authors.lastname: Sencer
authors.forename: Levent
authors.initials: L
authors.lastname: Onat
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sirvanci
mesh_terms: 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
chemical_list: 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