Abstract
Objective: To perform a morphometric and metabolic assessment of the cerebellum in CD.
Background: Primary cervical dystonia (CD) is characterized by excessive and sustained muscle contractions at the cervical region. Cerebellar pathways have been implicated in its pathophysiology in prior neuroimaging studies.
Design/Methods: Clinical evaluation included a thorough review of medical and dystonia history, physical examination, and the Marsden-Fahn (MFS) and TWSTRS scales. Volumetric images with 1 mm slice thickness using a 3.0T scanner were acquired for 13 patients and 14 controls. Images were converted into MNC, and we used the Display software for manual segmentation of the cerebellum. For the VBM analysis images were converted to ANALYSE. For more specific results regarding the cerebellum we used the SUIT tool from SPM and statistics were done with SPM 8/DARTEL. Proton MR spectroscopy (MRS) was acquired from a 1.5x1.5x1.5 cm³ voxel at the cerebellum, using a PRESS sequence and quantified by LCModel. We used only Cramer-Rao bounds < 30%.
Results: Mean age was 53.15±12.05, disease duration 11.62 ±5.6, toxin botulinum (BoNT) therapy duration 6.77 ±4.94, MFS 3.46±0.2, TWSTRS 38.42±11.2. Seven patients had normal exon 5 sequencing of the TOR1A gene. There was no difference in age and sex distribution between groups. Neither manual volumetry nor VBM demonstrated differences between CD and controls. However, CD patients had significantly lower creatine/ N-acetylaspartate + N-acetylaspartylglutamate (0.715±0.14 vs 0.55±0.07; p=0.023), creatine/ creatine phosphocreatine (3.05±0.56 vs 2.244±0.251; p=0.010) and creatine/glycerophosphocholine + phosphocholine (0.79±0.13 vs 0.618±0.082; p=0.008). Moreover, we found a correlation between creatine/glycerophosphocholine + phosphocholine vs TWSTRS (r=0.685, respectively; p<0.05 ).
Conclusions: Although there is no obvious structural damage in the cerebellum in CD, we found clear metabolic changes in the cerebellum indicating energy dysfunction, which correlated with clinical and functional status. Future functional studies involving the cerebellum may provide further knowledge on CD.
Disclosure: Dr. Piovesana has nothing to disclose. Dr.Campos has received personal compensation for activities with Ipsen. Dr. Torres has nothing to disclose. Dr. Cendes has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose. Dr. Castellano has nothing to disclose. Dr. Franca has nothing to disclose. Dr. Piccinin has nothing to disclose. Dr. Santos has nothing to disclose. Dr. Mineli has nothing to disclose. Dr. Landim has nothing to disclose. Dr. Amato-Filho has nothing to disclose. Dr. D'Abreu has received research support from Roche.
Background: Primary cervical dystonia (CD) is characterized by excessive and sustained muscle contractions at the cervical region. Cerebellar pathways have been implicated in its pathophysiology in prior neuroimaging studies.
Design/Methods: Clinical evaluation included a thorough review of medical and dystonia history, physical examination, and the Marsden-Fahn (MFS) and TWSTRS scales. Volumetric images with 1 mm slice thickness using a 3.0T scanner were acquired for 13 patients and 14 controls. Images were converted into MNC, and we used the Display software for manual segmentation of the cerebellum. For the VBM analysis images were converted to ANALYSE. For more specific results regarding the cerebellum we used the SUIT tool from SPM and statistics were done with SPM 8/DARTEL. Proton MR spectroscopy (MRS) was acquired from a 1.5x1.5x1.5 cm³ voxel at the cerebellum, using a PRESS sequence and quantified by LCModel. We used only Cramer-Rao bounds < 30%.
Results: Mean age was 53.15±12.05, disease duration 11.62 ±5.6, toxin botulinum (BoNT) therapy duration 6.77 ±4.94, MFS 3.46±0.2, TWSTRS 38.42±11.2. Seven patients had normal exon 5 sequencing of the TOR1A gene. There was no difference in age and sex distribution between groups. Neither manual volumetry nor VBM demonstrated differences between CD and controls. However, CD patients had significantly lower creatine/ N-acetylaspartate + N-acetylaspartylglutamate (0.715±0.14 vs 0.55±0.07; p=0.023), creatine/ creatine phosphocreatine (3.05±0.56 vs 2.244±0.251; p=0.010) and creatine/glycerophosphocholine + phosphocholine (0.79±0.13 vs 0.618±0.082; p=0.008). Moreover, we found a correlation between creatine/glycerophosphocholine + phosphocholine vs TWSTRS (r=0.685, respectively; p<0.05 ).
Conclusions: Although there is no obvious structural damage in the cerebellum in CD, we found clear metabolic changes in the cerebellum indicating energy dysfunction, which correlated with clinical and functional status. Future functional studies involving the cerebellum may provide further knowledge on CD.
Disclosure: Dr. Piovesana has nothing to disclose. Dr.Campos has received personal compensation for activities with Ipsen. Dr. Torres has nothing to disclose. Dr. Cendes has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose. Dr. Castellano has nothing to disclose. Dr. Franca has nothing to disclose. Dr. Piccinin has nothing to disclose. Dr. Santos has nothing to disclose. Dr. Mineli has nothing to disclose. Dr. Landim has nothing to disclose. Dr. Amato-Filho has nothing to disclose. Dr. D'Abreu has received research support from Roche.
| Original language | English |
|---|---|
| Number of pages | 2 |
| Journal | Neurology |
| Volume | 78 |
| Issue number | 1 Supplement |
| Publication status | Published - 23 Apr 2012 |
| Externally published | Yes |
| Event | American Academy of Neurology (AAN) 64th Annual Meeting - New Orleans, United States Duration: 21 Apr 2012 → 28 Apr 2012 |