Daniela A. Bota, Kelvin J.A. Davies, Free Radical Biology and Medicine, Available online 5 July 2016, ISSN 0891-5849, doi:10.1016/j.freeradbiomed.2016.06.031.
Friedreich ataxia (FRDA)show a clear progressive increase in Lon protein levels. Lon upregulation is also accompanied by an increase in proteolytic activity, and by decreased levels of mitochondrial Fe–S proteins. The effect of Lon upregulation on loss of mitochondrial Fe-S proteins during the progression of the disease suggests that Fe-S proteins may be targets of Lon in FRDA.
Wednesday, October 5, 2016
Monday, October 3, 2016
A neurodegenerative perspective on mitochondrial optic neuropathies
Patrick Yu-Wai-Man , Marcela Votruba, Florence Burté, Chiara La Morgia, Piero Barboni, Valerio Carelli; Review: Acta Neuropathologica pp 1-18 First online: 30 September 2016 doi:10.1007/s00401-016-1625-2
Open Access
Friedreich Ataxia (FRDA) is the most common form of hereditary ataxia and it is due to recessive mutations in the FXN gene, which encodes for a mitochondrial protein involved in the biosynthetic pathways of iron-sulphur clusters. The latter are essential components of aconitase and the mitochondrial respiratory chain complexes I, II and III, and their combined dysfunction probably contributes to the development of optic neuropathy, which is now a well-recognised feature of FRDA.
Open Access
Friedreich Ataxia (FRDA) is the most common form of hereditary ataxia and it is due to recessive mutations in the FXN gene, which encodes for a mitochondrial protein involved in the biosynthetic pathways of iron-sulphur clusters. The latter are essential components of aconitase and the mitochondrial respiratory chain complexes I, II and III, and their combined dysfunction probably contributes to the development of optic neuropathy, which is now a well-recognised feature of FRDA.
Sunday, October 2, 2016
Use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia.
(1888PressRelease) October 01, 2016 - MarketsandMarkets Conferences. Dr. Jacques P. Tremblay from University of Laval, Quebec joins the speaker panel for the 2nd Annual Genome Editing & Engineering Conference
Dr. Tremblay will be presenting at the conference on use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia. Joining Dr. Tremblay on the panel will be experts representing organizations such as University of Utah School of Medicine, Massachusetts Institute of Technology, J. Craig Venter Institute, University of Nebraska Medical Center, University of California, University of Washington, University of Southern California, University of Rochester, National Institutes of Health, University of Texas, University of Minnesota, Hiroshima University and Wellcome Trust Sanger Institute.
Dr. Tremblay will be presenting at the conference on use of CRISPR/Cas9 system to correct mutations responsible for Duchenne Muscular Dystrophy and Friedreich ataxia. Joining Dr. Tremblay on the panel will be experts representing organizations such as University of Utah School of Medicine, Massachusetts Institute of Technology, J. Craig Venter Institute, University of Nebraska Medical Center, University of California, University of Washington, University of Southern California, University of Rochester, National Institutes of Health, University of Texas, University of Minnesota, Hiroshima University and Wellcome Trust Sanger Institute.
Late-Onset Friedreich’s Ataxia (LOFA) Mimicking Charcot–Marie–Tooth Disease Type 2: What Is Similar and What Is Different?
Rubens Paulo A. Salomão, Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Fernanda Maggi, José Luiz Pedroso , Orlando G. P. Barsottini; Short Report, The Cerebellum pp 1-3 First online: 29 September 2016 doi:10.1007/s12311-016-0822-9
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot–Marie–Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich’s ataxia (FRDA). We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.
Herein, we report a patient that presented with late-onset progressive steppage gait, neuropathy and pes cavus, suggesting Charcot–Marie–Tooth (CMT) disease. Subsequent genetic investigation confirmed Friedreich’s ataxia (FRDA). We suggest that late-onset forms of hereditary neuropathies should be carefully evaluated, since LOFA may be a CMT mimicker.
Friday, September 30, 2016
Congenital and Hereditary Diseases of the Spinal Cord, Seminars in Ultrasound, CT and MRI
Lily L. Wang, Karin S. Bierbrauer, Available online 14 July 2016, ISSN 0887-2171, doi:10.1053/j.sult.2016.07.002.
Friedreich’s ataxia is a hereditary autosomal recessive movement disorder usually beginning in childhood and progresses with age. The cerebellum and the spinal cord are involved. The autonomic system can be involved as the disease progresses. Cardiac disease, diabetes, scoliosis are common associations. Genetic testing offers a conclusive diagnosis in patients with a compatible history and clinical examination. Imaging in Friedreich’s ataxia has been mostly focused in the brain. Spinal findings are non-specific on conventional MRI with cervical cord atrophy.
Friedreich’s ataxia is a hereditary autosomal recessive movement disorder usually beginning in childhood and progresses with age. The cerebellum and the spinal cord are involved. The autonomic system can be involved as the disease progresses. Cardiac disease, diabetes, scoliosis are common associations. Genetic testing offers a conclusive diagnosis in patients with a compatible history and clinical examination. Imaging in Friedreich’s ataxia has been mostly focused in the brain. Spinal findings are non-specific on conventional MRI with cervical cord atrophy.
Thursday, September 29, 2016
A longitudinal study of the SF-36 version 2 in Friedreich ataxia
G. Tai, L. A. Corben, E. M. Yiu and M. B. Delatycki; Acta Neurologica Scandinavica, Version of Record online: 28 SEP 2016 DOI: 10.1111/ane.12693
This study aimed to examine the relationship between SF-36 version 2 (SF-36V2) summary scores and Friedreich ataxia (FRDA) clinical characteristics, and to investigate the responsiveness of the scale, in comparison with the Friedreich Ataxia Rating Scale (FARS), over 1, 2 and 3 years.
Our findings suggest that despite physical decline, individuals with FRDA have relatively stable mental well-being. This study demonstrates that the SF-36V2 is unlikely to be a useful tool for identifying clinical change in FRDA therapeutic trials.
This study aimed to examine the relationship between SF-36 version 2 (SF-36V2) summary scores and Friedreich ataxia (FRDA) clinical characteristics, and to investigate the responsiveness of the scale, in comparison with the Friedreich Ataxia Rating Scale (FARS), over 1, 2 and 3 years.
Our findings suggest that despite physical decline, individuals with FRDA have relatively stable mental well-being. This study demonstrates that the SF-36V2 is unlikely to be a useful tool for identifying clinical change in FRDA therapeutic trials.
Wednesday, September 28, 2016
Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia
Semiha Kurt, Betul Cevik, Durdane Aksoy, E. Irmak Sahbaz, Aslı Gundogdu Eken, and A. Nazli Basak. Case Reports in Neurological Medicine Volume 2016 (2016), Article ID 4515938, 7 pages doi:10.1155/2016/4515938
Open access article distributed under the Creative Commons Attribution License
Open access article distributed under the Creative Commons Attribution License
Tuesday, September 27, 2016
Other movement disorders
Silverdale MA, Medicine (2016), doi:10.1016/j.mpmed.2016.06.010
Structural problems usually show on cranial magnetic resonance imaging. The age of onset often helps to reach a diagnosis in chronic cerebellar disorders. Many genetic conditions present at a younger age, whereas other conditions such as multiple system atrophy present at an older age. Cranial imaging can help in chronic cerebellar disorders: some conditions cause cerebellar atrophy (e.g. ataxia telangiectasia) whereas others usually do not (e.g. Friedreich’s ataxia).
Structural problems usually show on cranial magnetic resonance imaging. The age of onset often helps to reach a diagnosis in chronic cerebellar disorders. Many genetic conditions present at a younger age, whereas other conditions such as multiple system atrophy present at an older age. Cranial imaging can help in chronic cerebellar disorders: some conditions cause cerebellar atrophy (e.g. ataxia telangiectasia) whereas others usually do not (e.g. Friedreich’s ataxia).
Monday, September 26, 2016
Mitochondrial dysfunction and diabetic retinopathy
Toke Bek, Chair, Mitochondrion, Available online 22 July 2016, ISSN 1567-7249, doi:10.1016/j.mito.2016.07.011
Friedreich's spinal ataxia, Diabetes mellitus in this condition is due to a loss of pancreatic beta cell function secondary to the mitochondrial dysfunction (Kersten et al 2014). One patient followed in the author's clinic had no registered diabetic retinopathy after five years of diabetes duration but had no light perception because of the neurological deficits of the disease.
Friedreich's spinal ataxia, Diabetes mellitus in this condition is due to a loss of pancreatic beta cell function secondary to the mitochondrial dysfunction (Kersten et al 2014). One patient followed in the author's clinic had no registered diabetic retinopathy after five years of diabetes duration but had no light perception because of the neurological deficits of the disease.
Sunday, September 25, 2016
The physiological basis of therapies for cerebellar ataxias
Hiroshi Mitoma and Mario Manto; Therapeutic Advances in Neurological Disorders September 2016 9: 396-413, doi:10.1177/1756285616648940
In conclusion, the understanding of the physiological basis of the various therapies is a critical step for clinicians dealing with CAs. We suggest that some degree of reversibility can be achieved if the therapies of CAs are administered as early as possible and take into account the pathogenesis behind the disorder. Novel therapies should take into account the mechanisms of the cerebellar circuitry in order to be effective
In conclusion, the understanding of the physiological basis of the various therapies is a critical step for clinicians dealing with CAs. We suggest that some degree of reversibility can be achieved if the therapies of CAs are administered as early as possible and take into account the pathogenesis behind the disorder. Novel therapies should take into account the mechanisms of the cerebellar circuitry in order to be effective
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