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.
Friday, September 30, 2016
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
Saturday, September 24, 2016
Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells.
Coskun, V. and Lombardo, D. M. (2016), J. Neurosci. Res.. doi: 10.1002/jnr.23924
Analysis of the hearts of patients with FA shows detectable iron accumulation, supporting the idea of iron overload as the disease mechanism. The innervation pattern of the heart by parasympathetic, sympathetic, and sensory neurons, as well as their interaction with the cardiac conduction system, is critical for the homeostatic operation of the cardiovascular system. In situations such as exercise, traumatic injury, or blood loss, a compensatory increase in cardiac output is achieved by a corresponding increase in adrenergic activity.
Analysis of the hearts of patients with FA shows detectable iron accumulation, supporting the idea of iron overload as the disease mechanism. The innervation pattern of the heart by parasympathetic, sympathetic, and sensory neurons, as well as their interaction with the cardiac conduction system, is critical for the homeostatic operation of the cardiovascular system. In situations such as exercise, traumatic injury, or blood loss, a compensatory increase in cardiac output is achieved by a corresponding increase in adrenergic activity.
Friday, September 23, 2016
Emerging therapies for mitochondrial disorder
Helen Nightingale, Gerald Pfeffer, David Bargiela, Rita Horvath, Patrick F. Chinnery. Brain, 1633-1648 First published online: 3 May 2016 DOI:10.1093/brain/aww081
Open Access, (Creative Commons Attribution License)
From a clinical perspective, nuclear-genetic enzyme defects show the greatest promise. Stem cell therapy is already being used in specific contexts, and its efficacy and safety being evaluated, and gene therapy trials in mouse models show clear benefits. Unfortunately, each one of these rare genetic diseases may require their own proprietary approach, and the impact needs to be evaluated long-term. Small molecules are attractive because they have the potential to provide a more generic solution applicable across the mitochondrial disease spectrum, and a greater understanding of cell signalling pathways opens up several unexpected disease targets. For some of these drugs, clinical evaluation is imminent, particularly for those being repurposed or repositioned drugs such as bezafibrate. It is critical at this stage that laboratory and clinical scientists work closely with patient organizations to ensure that the ultimate aims of therapy will actually tackle issues that are important to patients. Given limited resources, this will ensure that new treatments improve quality of life—a prerequisite if these treatments are going to be adopted by healthcare systems worldwide.
Open Access, (Creative Commons Attribution License)
From a clinical perspective, nuclear-genetic enzyme defects show the greatest promise. Stem cell therapy is already being used in specific contexts, and its efficacy and safety being evaluated, and gene therapy trials in mouse models show clear benefits. Unfortunately, each one of these rare genetic diseases may require their own proprietary approach, and the impact needs to be evaluated long-term. Small molecules are attractive because they have the potential to provide a more generic solution applicable across the mitochondrial disease spectrum, and a greater understanding of cell signalling pathways opens up several unexpected disease targets. For some of these drugs, clinical evaluation is imminent, particularly for those being repurposed or repositioned drugs such as bezafibrate. It is critical at this stage that laboratory and clinical scientists work closely with patient organizations to ensure that the ultimate aims of therapy will actually tackle issues that are important to patients. Given limited resources, this will ensure that new treatments improve quality of life—a prerequisite if these treatments are going to be adopted by healthcare systems worldwide.
Thursday, September 22, 2016
Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases
Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, Adelita V Ranchor and Irene M van Langen; European Journal of Human Genetics (2016) 24, 1417–1423; doi:10.1038/ejhg.2016.43
OPEN ACCESS
OPEN ACCESS
Wednesday, September 21, 2016
‘You should at least ask’. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research
Pauline McCormack, Anna Kole, Sabina Gainotti, Deborah Mascalzoni, Caron Molster, Hanns Lochmüller and Simon Woods; European Journal of Human Genetics (2016) 24, 1403–1408; doi:10.1038/ejhg.2016.30
One of the means of doing this is to ensure that patient organisations are represented in ongoing governance of a global platform such as RD-Connect as part of ensuring that participants feel they have an equivalent level of protection and control in these global interactions as they do in their local relationships with researchers.
One of the means of doing this is to ensure that patient organisations are represented in ongoing governance of a global platform such as RD-Connect as part of ensuring that participants feel they have an equivalent level of protection and control in these global interactions as they do in their local relationships with researchers.
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