Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I

2020 ◽  
Author(s):  
Maria Margarita Lopez‐Titla ◽  
Amanda Chirino ◽  
Sara Vanessa Cruz Solis ◽  
Carlos R. Hernandez‐Castillo ◽  
Rosalinda Diaz ◽  
...  
2002 ◽  
Vol 249 (5) ◽  
pp. 629-630 ◽  
Author(s):  
Kayıhan Uluc ◽  
E. Murat Arsava ◽  
Sevim Erdem ◽  
Ersin Tan

2021 ◽  
Vol 80 (2) ◽  
pp. 567-576
Author(s):  
Fei Han ◽  
Fei-Fei Zhai ◽  
Ming-Li Li ◽  
Li-Xin Zhou ◽  
Jun Ni ◽  
...  

Background: Mechanisms through which arterial stiffness impacts cognitive function are crucial for devising better strategies to prevent cognitive decline. Objective: To examine the associations of arterial stiffness with white matter integrity and cognition in community dwellings, and to investigate whether white matter injury was the intermediate of the associations between arterial stiffness and cognition. Methods: This study was a cross-sectional analysis on 952 subjects (aged 55.5±9.1 years) who underwent diffusion tensor imaging and measurement of brachial-ankle pulse wave velocity (baPWV). Both linear regression and tract-based spatial statistics were used to investigate the association between baPWV and white matter integrity. The association between baPWV and global cognitive function, measured as the mini-mental state examination (MMSE) was evaluated. Mediation analysis was performed to assess the influence of white matter integrity on the association of baPWV with MMSE. Results: Increased baPWV was significantly associated with lower mean global fractional anisotropy (β= –0.118, p < 0.001), higher mean diffusivity (β= 0.161, p < 0.001), axial diffusivity (β= 0.160, p < 0.001), and radial diffusivity (β= 0.147, p < 0.001) after adjustment of age, sex, and hypertension, which were measures having a direct effect on arterial stiffness and white matter integrity. After adjustment of age, sex, education, apolipoprotein E ɛ4, cardiovascular risk factors, and brain atrophy, we found an association of increased baPWV with worse performance on MMSE (β= –0.093, p = 0.011). White matter disruption partially mediated the effect of baPWV on MMSE. Conclusion: Arterial stiffness is associated with white matter disruption and cognitive decline. Reduced white matter integrity partially explained the effect of arterial stiffness on cognition.


2019 ◽  
Vol 21 ◽  
pp. 101615 ◽  
Author(s):  
Maud van Dorst ◽  
Kees Okkersen ◽  
Roy P.C. Kessels ◽  
Frederick J.A. Meijer ◽  
Darren G. Monckton ◽  
...  

2019 ◽  
Author(s):  
Masamitsu Nishi ◽  
Takashi Kimura ◽  
Mitsuru Furuta ◽  
Koichi Suenaga ◽  
Tsuyoshi Matsumura ◽  
...  

AbstractMyotonic dystrophy type 1 (DM1) is a multi-system disorder caused by CTG repeats in the myotonic dystrophy protein kinase (DMPK) gene. This leads to sequestration of the splicing factor, muscleblind-like 2 (MBNL2), and aberrant splicing, mainly in the central nervous system. We investigated the splicing patterns of MBNL1/2 and genes controlled by MBNL2 in several regions of the brain and between the grey matter (GM) and white matter (WM) in DM1 patients using RT-PCR. Compared with the control, the percentage of spliced-in parameter (PSI) for most of the examined exons were significantly altered in most of the brain regions of DM1 patients, except for the cerebellum. The splicing of many genes was differently regulated between the GM and WM in both DM1 and control. The level of change in PSI between DM1 and control was higher in the GM than in the WM. The differences in alternative splicing between the GM and WM may be related to the effect of DM1 on the WM of the brain. We hypothesize that in DM1, aberrantly spliced isoforms in the neuronal cell body of the GM may not be transported to the axon. This might affect the WM as a consequence of Wallerian degeneration secondary to cell body damage. Our findings may have implications for analysis of the pathological mechanisms and exploring potential therapeutic targets.


2016 ◽  
Vol 48 ◽  
pp. 641 ◽  
Author(s):  
Marie-Pier Roussel ◽  
Marika Morin ◽  
Émile Petitclerc ◽  
Anne-Marie Fortin ◽  
Cynthia Gagnon ◽  
...  

PLoS Genetics ◽  
2013 ◽  
Vol 9 (12) ◽  
pp. e1003866 ◽  
Author(s):  
Michelle M. Axford ◽  
Yuh-Hwa Wang ◽  
Masayuki Nakamori ◽  
Maria Zannis-Hadjopoulos ◽  
Charles A. Thornton ◽  
...  

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