Friedreich Ataxia

2007 ◽  
pp. 103-119 ◽  
Author(s):  
Massimo Pandolfo
Keyword(s):  
Friedreich Ataxia

scholarly journals Neurodegenerative disorders associated with genes of mitochondria

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Vaibhav S. Marde ◽  
Prerna L. Tiwari ◽  
Nitu L. Wankhede ◽  
Brijesh G. Taksande ◽  
Aman B. Upaganlawar ◽  
...  
Keyword(s):  
Neurodegenerative Diseases ◽  
Mitochondrial Dysfunction ◽  
Neurodegenerative Disorders ◽  
Friedreich Ataxia ◽  
Mitochondrial Genes ◽  
Disease Development ◽  
Main Text ◽  
Functional Studies ◽  
Dominant Part ◽  
Causative Link

Abstract Background Over the last decade, aggregating evidences suggested that there is a causative link between mutation in gene associated with mitochondrial dysfunction and development of several neurodegenerative disorders. Main text Recent structural and functional studies associated with mitochondrial genes have shown that mitochondrial abnormalities possibly lead to mitochondrial dysfunction. Several studies on animal models of neurodegenerative diseases and mitochondrial genes have provided compelling evidence that mitochondria is involved in the initiation as well as progression of diseases such as Parkinson’s disease (PD), Alzheimer’s disease (AD), Huntington’s disease (HD), and Friedreich ataxia (FA). Conclusion In this mini-review, we have discussed the different etiologic and pathogenesis connected with the mitochondrial dysfunction and relevant neurodegenerative diseases that underlie the dominant part of mitochondrial genes in the disease development and its progress.

Sensitivity of Spatiotemporal Gait Parameters in Measuring Disease Severity in Friedreich Ataxia

2014 ◽  
Vol 13 (6) ◽  
pp. 677-688 ◽  
Author(s):  
Sarah C. Milne ◽  
Darren R. Hocking ◽  
Nellie Georgiou-Karistianis ◽  
Anna Murphy ◽  
Martin B. Delatycki ◽  
...  
Keyword(s):  
Disease Severity ◽  
Friedreich Ataxia ◽  
Gait Parameters

scholarly journals Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family

2021 ◽  
Author(s):  
Cheick A. K. Cissé ◽  
Lassana Cissé ◽  
Hamidou O. Ba ◽  
Oumar Samassékou ◽  
Assiatou Simaga ◽  
...  
Keyword(s):  
West Africa ◽  
Friedreich Ataxia

scholarly journals Friedreich ataxia in COVID-19 time: current impact and future possibilities

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Tommaso Schirinzi ◽  
Andrea Sancesario ◽  
Enrico Castelli ◽  
Enrico Bertini ◽  
Gessica Vasco
Keyword(s):  
Physical Activity ◽  
Global Health ◽  
Neurodegenerative Diseases ◽  
Daily Life ◽  
Friedreich Ataxia ◽  
Electronic Survey ◽  
Home Based ◽  
Training Strategies ◽  
Physical Activity Programs ◽  
Current Impact

AbstractCOVID-19 outbreak profoundly impacted on daily-life of patients with neurodegenerative diseases, including those with ataxia. Effects on interventional trials have been recently described. Conversely, changes in physical activity programs, which are crucial in care of ataxic patients, have not been assessed yet.Here we used a structured electronic survey to interview twenty patients with Friedreich ataxia (FA) on changes in physical activity during the lockdown in Italy.Regular physiotherapy was interrupted for most patients and up to 60% of them referred a substantial worsening of self-perceived global health. However, FA patients (especially those mildly affected) adopted voluntarily home-based training strategies and, in 30% of cases, used technology-based tools (TBTs) for exercise.COVID-19 crisis thus disclosed the urgent need to support ataxic patients improving systems for remote physical activity and technology-based assistance.

Changes detected in swallowing function in Friedreich ataxia over 12 months

2019 ◽  
Vol 29 (10) ◽  
pp. 786-793 ◽  
Author(s):  
Megan Keage ◽  
Martin B. Delatycki ◽  
Jessamy Dyer ◽  
Louise A. Corben ◽  
Adam P. Vogel
Keyword(s):  
Friedreich Ataxia ◽  
Swallowing Function

scholarly journals Gene Expression Profiling of Mitochondrial Oxidative Phosphorylation (OXPHOS) Complex I in Friedreich Ataxia (FRDA) Patients

PLoS ONE ◽  
2014 ◽  
Vol 9 (4) ◽  
pp. e94069 ◽  
Author(s):  
Mohammad Hossein Salehi ◽  
Behnam Kamalidehghan ◽  
Massoud Houshmand ◽  
Goh Yong Meng ◽  
Majid Sadeghizadeh ◽  
...  
Keyword(s):  
Gene Expression ◽  
Oxidative Phosphorylation ◽  
Gene Expression Profiling ◽  
Expression Profiling ◽  
Complex I ◽  
Friedreich Ataxia ◽  
Mitochondrial Oxidative Phosphorylation ◽  
Oxphos Complex

Impaired inhibition of prepotent motor tendencies in Friedreich ataxia demonstrated by the Simon interference task

2011 ◽  
Vol 76 (1) ◽  
pp. 140-145 ◽  
Author(s):  
L.A. Corben ◽  
H. Akhlaghi ◽  
N. Georgiou-Karistianis ◽  
J.L. Bradshaw ◽  
G.F. Egan ◽  
...  
Keyword(s):  
Friedreich Ataxia ◽  
Interference Task

scholarly journals Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

PLoS ONE ◽  
2009 ◽  
Vol 4 (1) ◽  
pp. e4253 ◽  
Author(s):  
Vincent Paupe ◽  
Emmanuel P. Dassa ◽  
Sergio Goncalves ◽  
Françoise Auchère ◽  
Maria Lönn ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Stress Response ◽  
Friedreich Ataxia ◽  
Oxidative Stress Response

scholarly journals Age of onset modulates resting‐state brain network dynamics in Friedreich Ataxia

2021 ◽  
Author(s):  
Gilles Naeije ◽  
Nicolas Coquelet ◽  
Vincent Wens ◽  
Serge Goldman ◽  
Massimo Pandolfo ◽  
...  
Keyword(s):  
Resting State ◽  
Age Of Onset ◽  
Network Dynamics ◽  
Friedreich Ataxia ◽  
Brain Network

Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes

2016 ◽  
Vol 16 (1) ◽  
pp. 253-256 ◽  
Author(s):  
Alberto R. M. Martinez ◽  
Adriana Moro ◽  
Agessandro Abrahao ◽  
Ingrid Faber ◽  
Conrado R. Borges ◽  
...  
Keyword(s):  
Late Onset ◽  
Friedreich Ataxia
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