TY - JOUR
T1 - Brain imaging in myotonic dystrophy type 1
AU - Okkersen, Kees
AU - Monckton, Darren G.
AU - Le, Nhu
AU - Tuladhar, Anil M.
AU - Raaphorst, Joost
AU - Van Engelen, Baziel G.M.
N1 - Funding Information: K. Okkersen reports no disclosures relevant to the manuscript. D. Monckton reports grant support from the Muscular Dystrophy UK, the Myotonic Dystrophy Support Group, the NIH and the European Union, and has been a paid scientific consultant of Biogen Idec and AMO Pharma. N. Le reports no disclosures relevant to the manuscript. A.M. Tuladhar serves as a junior staff member of the Dutch Heart Foundation. J. Raaphorst receives grant support from the Marigold Foundation. B.G.M. van Engelen receives grant support from the European Union FP-7 program (OPTIMISTIC project) and the Marigold Foundation. Go to Neurology.org for full disclosures. Funding Information: The research leading to these results has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 305697 (OPTIMISTIC project) and the Marigold Foundation. The funders have no role in the study design, data collection, analysis, interpretation of data, writing the report, or decision regarding when to submit publications. Publisher Copyright: © 2017 American Academy of Neurology.
PY - 2017/8/29
Y1 - 2017/8/29
N2 - Objective: To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). Methods: We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible. Results: In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64-77), compared with 6% (95% CI 3-12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce. Conclusions: DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.
AB - Objective: To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). Methods: We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible. Results: In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64-77), compared with 6% (95% CI 3-12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce. Conclusions: DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.
UR - http://www.scopus.com/inward/record.url?scp=85028503579&partnerID=8YFLogxK
U2 - https://doi.org/10.1212/WNL.0000000000004300
DO - https://doi.org/10.1212/WNL.0000000000004300
M3 - Review article
C2 - 28768849
SN - 0028-3878
VL - 89
SP - 960
EP - 969
JO - Neurology
JF - Neurology
IS - 9
ER -