A functional MRI study of motor dysfunction in Friedreich's ataxia

2012 ◽  
Vol 1471 ◽  
pp. 138-154 ◽  
Author(s):  
H. Akhlaghi ◽  
L. Corben ◽  
N. Georgiou-Karistianis ◽  
J. Bradshaw ◽  
M.B. Delatycki ◽  
...  
Keyword(s):  
Functional Mri ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Motor Dysfunction ◽  
Mri Study

Functional MRI study of Friedreich's ataxia using Simon task

NeuroImage ◽  
2009 ◽  
Vol 47 ◽  
pp. S44
Author(s):  
H Akhlaghi ◽  
L Corben ◽  
E Storey ◽  
J Bradshaw ◽  
A Churchyard ◽  
...  
Keyword(s):  
Functional Mri ◽  
Simon Task ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Mri Study

scholarly journals Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

eLife ◽  
2017 ◽  
Vol 6 ◽  
Author(s):  
Vijayendran Chandran ◽  
Kun Gao ◽  
Vivek Swarup ◽  
Revital Versano ◽  
Hongmei Dong ◽  
...  
Keyword(s):  
Mouse Model ◽  
Recovery Of Function ◽  
Friedreich’S Ataxia ◽  
Multiple Organ ◽  
Friedreich's Ataxia ◽  
Motor Dysfunction ◽  
Relative Contribution ◽  
Adult Mice ◽  
Organ Systems ◽  
Cellular Dysfunction

Friedreich's ataxia (FRDA), the most common inherited ataxia, is caused by recessive mutations that reduce the levels of frataxin (FXN), a mitochondrial iron binding protein. We developed an inducible mouse model of Fxn deficiency that enabled us to control the onset and progression of disease phenotypes by the modulation of Fxn levels. Systemic knockdown of Fxn in adult mice led to multiple phenotypes paralleling those observed in human patients across multiple organ systems. By reversing knockdown after clinical features appear, we were able to determine to what extent observed phenotypes represent reversible cellular dysfunction. Remarkably, upon restoration of near wild-type FXN levels, we observed significant recovery of function, associated pathology and transcriptomic dysregulation even after substantial motor dysfunction and pathology were observed. This model will be of broad utility in therapeutic development and in refining our understanding of the relative contribution of reversible cellular dysfunction at different stages in disease.

scholarly journals Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

2017 ◽  
Author(s):  
Vijayendran Chandran ◽  
Kun Gao ◽  
Vivek Swarup ◽  
Revital Versano ◽  
Hongmei Dong ◽  
...  
Keyword(s):  
Mouse Model ◽  
Recovery Of Function ◽  
Friedreich’S Ataxia ◽  
Multiple Organ ◽  
Friedreich's Ataxia ◽  
Motor Dysfunction ◽  
Relative Contribution ◽  
Adult Mice ◽  
Organ Systems ◽  
Cellular Dysfunction

ABSTRACTFriedreich’s ataxia (FRDA), the most common inherited ataxia, is caused by recessive mutations that reduce the levels of frataxin (FXN), a mitochondrial iron binding protein. We developed an inducible mouse model of Fxn deficiency that enabled us to control the onset and progression of disease phenotypes by the modulation of Fxn levels. Systemic knockdown of Fxn in adult mice led to multiple phenotypes paralleling those observed in human patients across multiple organ systems. By reversing knockdown after clinical features appear, we were able to determine to what extent observed phenotypes represent reversible cellular dysfunction. Remarkably, upon restoration of near wild-type FXN levels, we observed significant recovery of function, associated pathology and transcriptomic dysregulation even after substantial motor dysfunction and pathology were observed. This model will be of broad utility in therapeutic development and in refining our understanding of the relative contribution of reversible cellular dysfunction at different stages in disease.

scholarly journals Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich’s ataxia

Brain ◽  
2015 ◽  
Vol 138 (5) ◽  
pp. 1182-1197 ◽  
Author(s):  
Maria R. Stefanescu ◽  
Moritz Dohnalek ◽  
Stefan Maderwald ◽  
Markus Thürling ◽  
Martina Minnerop ◽  
...  
Keyword(s):  
Functional Mri ◽  
Cerebellar Cortex ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia

Neural correlates of voice gender and message framing in advertising: A functional MRI study.

2017 ◽  
Vol 10 (4) ◽  
pp. 121-136 ◽  
Author(s):  
Luis-Alberto Casado-Aranda ◽  
Juan Sánchez-Fernández ◽  
Francisco J. Montoro-Ríos
Keyword(s):  
Functional Mri ◽  
Message Framing ◽  
Neural Correlates ◽  
Mri Study

Otoneurological Findings in Friedreich's Ataxia and Other Inherited Neuropathies

1986 ◽  
Vol 25 (2) ◽  
pp. 84-91 ◽  
Author(s):  
E. Cassandro ◽  
F. Mosca ◽  
L. Sequino ◽  
F. A. De Falco ◽  
G. Campanella
Keyword(s):  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Inherited Neuropathies
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