Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients

2020 ◽  
Vol 78 ◽  
pp. 73-78
Author(s):  
Alex Tiburtino Meira ◽  
Walter Oleschko Arruda ◽  
Sergio Eiji Ono ◽  
Gustavo Leite Franklin ◽  
Arnolfo de Carvalho Neto ◽  
...  
2020 ◽  
Author(s):  
Bruno Shigueo Yonekura Inada ◽  
Thiago Junqueira Ribeiro Rezende ◽  
Fernando Vieira Pereira ◽  
Lucas Ávila Lessa Garcia ◽  
Antônio José da Rocha ◽  
...  

2019 ◽  
Vol 9 (12) ◽  
pp. 354 ◽  
Author(s):  
Chi-Wen Jao ◽  
Bing-Wen Soong ◽  
Chao-Wen Huang ◽  
Chien-An Duan ◽  
Chih-Chun Wu ◽  
...  

Multiple system atrophy cerebellar type (MSA-C) and spinocerebellar ataxia type 3 (SCA3) demonstrate similar manifestations, including ataxia, pyramidal and extrapyramidal signs, as well as atrophy and signal intensity changes in the cerebellum and brainstem. MSA-C and SCA3 cannot be clinically differentiated through T1-weighted magnetic resonance imaging (MRI) alone; therefore, clinical consensus criteria and genetic testing are also required. Here, we used diffusion tensor imaging (DTI) to measure water molecular diffusion of white matter and investigate the difference between MSA-C and SCA3. Four measurements were calculated from DTI images, including fractional anisotropy (FA), axial diffusivity (AD), radial diffusivity (RD), and mean diffusivity (MD). Fifteen patients with MSA-C, 15 patients with SCA3, and 30 healthy individuals participated in this study. Both patient groups demonstrated a significantly decreased FA but a significantly increased AD, RD, and MD in the cerebello-ponto-cerebral tracts. Moreover, patients with SCA3 demonstrated a significant decrease in FA but more significant increases in AD, RD, and MD in the cerebello-cerebral tracts than patients with MSAC. Our results may suggest that FA and MD can be effectively used for differentiating SCA3 and MSA-C, both of which are cerebellar ataxias and have many common atrophied regions in the cerebral and cerebellar cortex.


2004 ◽  
Vol 31 (S 1) ◽  
Author(s):  
L Schöls ◽  
J Andrich ◽  
H Przuntek ◽  
K Müller ◽  
J Zange

2021 ◽  
Vol 12 (2) ◽  
Author(s):  
Zhefan Stephen Chen ◽  
Xiaoying Huang ◽  
Kevin Talbot ◽  
Ho Yin Edwin Chan

AbstractPolyglutamine (polyQ) diseases comprise Huntington’s disease and several subtypes of spinocerebellar ataxia, including spinocerebellar ataxia type 3 (SCA3). The genomic expansion of coding CAG trinucleotide sequence in disease genes leads to the production and accumulation of misfolded polyQ domain-containing disease proteins, which cause cellular dysfunction and neuronal death. As one of the principal cellular protein clearance pathways, the activity of the ubiquitin–proteasome system (UPS) is tightly regulated to ensure efficient clearance of damaged and toxic proteins. Emerging evidence demonstrates that UPS plays a crucial role in the pathogenesis of polyQ diseases. Ubiquitin (Ub) E3 ligases catalyze the transfer of a Ub tag to label proteins destined for proteasomal clearance. In this study, we identified an E3 ligase, pre-mRNA processing factor 19 (Prpf19/prp19), that modulates expanded ataxin-3 (ATXN3-polyQ), disease protein of SCA3, induced neurodegeneration in both mammalian and Drosophila disease models. We further showed that Prpf19/prp19 promotes poly-ubiquitination and degradation of mutant ATXN3-polyQ protein. Our data further demonstrated the nuclear localization of Prpf19/prp19 is essential for eliciting its modulatory function towards toxic ATXN3-polyQ protein. Intriguingly, we found that exocyst complex component 7 (Exoc7/exo70), a Prpf19/prp19 interacting partner, modulates expanded ATXN3-polyQ protein levels and toxicity in an opposite manner to Prpf19/prp19. Our data suggest that Exoc7/exo70 exerts its ATXN3-polyQ-modifying effect through regulating the E3 ligase function of Prpf19/prp19. In summary, this study allows us to better define the mechanistic role of Exoc7/exo70-regulated Prpf19/prp19-associated protein ubiquitination pathway in SCA3 pathogenesis.


2021 ◽  
Author(s):  
Jeannette Hübener‐Schmid ◽  
Kirsten Kuhlbrodt ◽  
Julien Peladan ◽  
Jennifer Faber ◽  
Magda M. Santana ◽  
...  

2016 ◽  
Vol 16 (3) ◽  
pp. 589-592 ◽  
Author(s):  
Susanne K. Hansen ◽  
Helena Borland ◽  
Lis F. Hasholt ◽  
Zeynep Tümer ◽  
Jørgen E. Nielsen ◽  
...  

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