MR Spectroscopy Findings in Lafora Disease
| Autor: | Ege Terzibasioglu, Betül Baykan, Batuhan Kara, Ebru Altindag, Mustafa Sı, Levent Onat, Serra Sencer |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Myoclonus In vivo magnetic resonance spectroscopy Pathology medicine.medical_specialty Cerebellum Magnetic Resonance Spectroscopy Ataxia Adolescent Ubiquitin-Protein Ligases Progressive myoclonus epilepsy Severity of Illness Index Gastroenterology Lafora disease Young Adult Pons Internal medicine medicine Humans Radiology Nuclear Medicine and imaging business.industry Protein Tyrosine Phosphatases Non-Receptor medicine.disease Frontal Lobe medicine.anatomical_structure Lafora Disease nervous system Frontal lobe Disease Progression Anticonvulsants Female Neurology (clinical) Protons medicine.symptom Carrier Proteins business |
| Zdroj: | Journal of Neuroimaging. 19:359-365 |
| ISSN: | 1552-6569 1051-2284 |
| Popis: | PURPOSE Our aim was to investigate the [1H] 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. CONCLUSION 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. |
| Databáze: | OpenAIRE |
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