Cambridge, MA (PRWEB) January 16, 2017; Today, researchers at The Ohio State University in collaboration with scientists at the University of Pennsylvania and the National Institute of Aging published a reproducible method to noninvasively measure in vivo human skeletal muscle mitochondrial function in JoVE Video Journal.
Aberrant mitochondrial impairment is a hallmark of a wide range of metabolic syndromes and genetic diseases, from common conditions such as aging and diabetes to rare disorders such as Friedreich's ataxia.
Tuesday, January 17, 2017
Monday, January 16, 2017
Health-related quality of life in patients with spinocerebellar ataxia
Health-related quality of life in patients with spinocerebellar ataxia, C.R. Sánchez-López, L. Perestelo-Pérez, A. Escobar, J. López-Bastida, P. Serrano-Aguilar, Neurología (English Edition), Available online 9 January 2017, ISSN 2173-5808, doi:10.1016/j.nrleng.2015.09.002.
Spinocerebellar ataxia (SCA) comprises a group of clinically and genetically heterogeneous diseases characterised by cerebellar degeneration, including up to 17 types of SCA with an autosomal dominant inheritance pattern and 5 type sof SCA with autosomal recessive inheritance. Overall SCA prevalence in Spain is 20.2 cases per 100 000 population.The prevalence of the autosomal dominant types of SCA is 1.2 cases per 100 000; prevalence of Friedreich ataxia,the most frequent autosomal recessive type of SCA, is 4.7 per 100 000 population.
In summary, decreased HRQoL in SCA seems to beexplained, at least partially, by loss of gait-related motorskills and the likely presence of depression and sleepdisorders. Early detection and effective treatment ofthese variables may contribute to improving HRQoL inpatients with SCA. Our findings suggests that making rehabilitation moreaccessible and intensive would delay and limit thephysical deterioration leading to disability and loss of independence for walking and performing daily living activ-ities. Psychotherapy, a supplementary treatment frequentlyrequested by patients with SCA, may also contribute toreducing the impact of the disease on non-motor function. Likewise, using self-administered HRQoL questionnaires inroutine clinical practice may provide useful additional information rarely obtained from conventional clinical assessment. Using SF-36 to measure HRQoL in patients with SCA in our setting would be useful not only for evaluating theresults of studies and clinical trials, but also for assessingthe real needs of these patients and their carers, which will result in better healthcare planning and allocation of resources.
Spinocerebellar ataxia (SCA) comprises a group of clinically and genetically heterogeneous diseases characterised by cerebellar degeneration, including up to 17 types of SCA with an autosomal dominant inheritance pattern and 5 type sof SCA with autosomal recessive inheritance. Overall SCA prevalence in Spain is 20.2 cases per 100 000 population.The prevalence of the autosomal dominant types of SCA is 1.2 cases per 100 000; prevalence of Friedreich ataxia,the most frequent autosomal recessive type of SCA, is 4.7 per 100 000 population.
In summary, decreased HRQoL in SCA seems to beexplained, at least partially, by loss of gait-related motorskills and the likely presence of depression and sleepdisorders. Early detection and effective treatment ofthese variables may contribute to improving HRQoL inpatients with SCA. Our findings suggests that making rehabilitation moreaccessible and intensive would delay and limit thephysical deterioration leading to disability and loss of independence for walking and performing daily living activ-ities. Psychotherapy, a supplementary treatment frequentlyrequested by patients with SCA, may also contribute toreducing the impact of the disease on non-motor function. Likewise, using self-administered HRQoL questionnaires inroutine clinical practice may provide useful additional information rarely obtained from conventional clinical assessment. Using SF-36 to measure HRQoL in patients with SCA in our setting would be useful not only for evaluating theresults of studies and clinical trials, but also for assessingthe real needs of these patients and their carers, which will result in better healthcare planning and allocation of resources.
Sunday, January 15, 2017
Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases—Friedreich's Ataxia Example
Li Yanjie, Polak Urszula, Clark Amanda D., Bhalla Angela D., Chen Yu-Yun, Li Jixue, Farmer Jennifer, Seyer Lauren, Lynch David, Butler Jill S., and Napierala Marek. Biopreservation and Biobanking. August 2016, 14(4): 324-329. doi:10.1089/bio.2015.0117.
Although classified as a neurodegenerative disease, Friedreich’s ataxia presents with a plethora of clinical symptoms, including ataxia, sensory abnormalities, heart dysfunction, diabetes, and auditory and visual loss.The variable number of GAA repeats among FRDA patients contributes to the clinical variability of the disease. Clinicians and scientists studying orphan diseases face the specific challenge of limited access to biospecimens due to the small number of patients suffering from the particular condition. Creating biorepositories of well-characterized patient samples and cell lines available for academic as well as commercial institutions is critical for developing successful therapeutic strategies to combat rare diseases.
Although classified as a neurodegenerative disease, Friedreich’s ataxia presents with a plethora of clinical symptoms, including ataxia, sensory abnormalities, heart dysfunction, diabetes, and auditory and visual loss.The variable number of GAA repeats among FRDA patients contributes to the clinical variability of the disease. Clinicians and scientists studying orphan diseases face the specific challenge of limited access to biospecimens due to the small number of patients suffering from the particular condition. Creating biorepositories of well-characterized patient samples and cell lines available for academic as well as commercial institutions is critical for developing successful therapeutic strategies to combat rare diseases.
Saturday, January 14, 2017
Friedreich's Ataxia and Variants
R. Bhidayasiri, Reference Module in Neuroscience and Biobehavioral Psychology, Elsevier, 2017, ISBN 9780128093245, doi:10.1016/B978-0-12-809324-5.00596-4.
Detailed genetic and family studies emphasize the potential heterogeneity in presenting phenotype as well as age of onset of patients with FRDA. The discovery of the frataxin gene has allowed genotype–phenotype correlations and confirmation that the FRDA expansion is responsible for classical FRDA, late-onset FRDA (LOFA), Friedreich's ataxia with retained reflexes (FARR), and Acadian ataxia.
Therapeutic approaches aimed at improving mitochondrial functioning and to increase frataxin expression, which may have lead to new realistic treatments in the future.
Detailed genetic and family studies emphasize the potential heterogeneity in presenting phenotype as well as age of onset of patients with FRDA. The discovery of the frataxin gene has allowed genotype–phenotype correlations and confirmation that the FRDA expansion is responsible for classical FRDA, late-onset FRDA (LOFA), Friedreich's ataxia with retained reflexes (FARR), and Acadian ataxia.
Therapeutic approaches aimed at improving mitochondrial functioning and to increase frataxin expression, which may have lead to new realistic treatments in the future.
Friday, January 13, 2017
Friedreich Ataxia: Hypoplasia of Spinal Cord and Dorsal Root Ganglia
Arnulf H. Koeppen MD, Alyssa B. Becker BA, Jiang Qian MD, PhD, Paul J. Feustel PhD. Journal of Neuropathology & Experimental Neurology, DOI:10.1093/jnen/nlw111, First published online: 12 January 2017
The FA patients included a wide range of disease onset and duration suggesting that the SC undergoes growth arrest early and remains abnormally small throughout life. The results strongly support the conclusion that these neural tissues are small because of hypoplasia rather than atrophy and that their developmental delay occurs independently.
It is of interest that Friedreich had already proposed in 1877 that smallness of the clavae (gracile and cuneate nuclei) was developmental.
The FA patients included a wide range of disease onset and duration suggesting that the SC undergoes growth arrest early and remains abnormally small throughout life. The results strongly support the conclusion that these neural tissues are small because of hypoplasia rather than atrophy and that their developmental delay occurs independently.
It is of interest that Friedreich had already proposed in 1877 that smallness of the clavae (gracile and cuneate nuclei) was developmental.
Thursday, January 12, 2017
New hearts for Friedreich patients
David Pleasure, Journal of the Neurological Sciences, Available online 12 January 2017, ISSN 0022-510X, doi:10.1016/j.jns.2017.01.035.
Editorial
The impact of the transplanted hearts on quality of life was large. The transplanted hearts showed no signs of cardiomyopathy during decades-long post-transplantation followup, providing strong evidence that FRDA cardiomyopathy develops independently of other manifestations of this systemic disease.
Editorial
The impact of the transplanted hearts on quality of life was large. The transplanted hearts showed no signs of cardiomyopathy during decades-long post-transplantation followup, providing strong evidence that FRDA cardiomyopathy develops independently of other manifestations of this systemic disease.
Wednesday, January 11, 2017
Cardiac transplantation in Friedreich ataxia: Extended follow-up
Ashley McCormick, Julianna Shinnick, Kim Schadt, Rose Rodriguez, Linda Addonizio, Michio Hirano, Susan Perlman, Kimberly Y. Lin, David R Lynch, Journal of the Neurological Sciences, Available online 10 January 2017, ISSN 0022-510X, doi:10.1016/j.jns.2017.01.027.
Observations emphasize that the rate and nature of progression to end stage heart failure in ndividuals with FRDA is highly variable and, at least in these unusual individuals, not easily predicted by their neurologic status or GAA triplet repeat length. Our case series demonstrates the safety and efficacy of heart transplantations as a possible treatment option for end-stage heart failure in the setting of neurologic disease in both early-and late-onset individuals.
Diagnosis of FRDA should not be viewed as an absolute contraindication that would negatively impact a patient’s candidacy for heart transplantation or re-transplantation.
Observations emphasize that the rate and nature of progression to end stage heart failure in ndividuals with FRDA is highly variable and, at least in these unusual individuals, not easily predicted by their neurologic status or GAA triplet repeat length. Our case series demonstrates the safety and efficacy of heart transplantations as a possible treatment option for end-stage heart failure in the setting of neurologic disease in both early-and late-onset individuals.
Diagnosis of FRDA should not be viewed as an absolute contraindication that would negatively impact a patient’s candidacy for heart transplantation or re-transplantation.
Tuesday, January 10, 2017
Catalent to Develop Softgel Capsules for JOT’s Leading Orphan Disease Candidates
Catalent. Somerset, N.J. (PRWEB) January 09, 2017 . Catalent Pharma Solutions, the leading global provider of advanced delivery technologies and development solutions for drugs, biologics and consumer health products, today announced that it is to evaluate Jupiter Orphan Therapeutics, Inc.’s (JOT) novel formulation of resveratrol, JOTROL, for delivery using Catalent’s R.P. Scherer softgel technology. Under the agreement, Catalent will assess different softgel delivery technologies for JOTROL to determine the optimum oral dosage form, before going on to manufacture doses for human PK studies and Phase II clinical studies.
JOTROL, which is being developed to remedy resveratrol’s poor bioavailability and dose limiting gastrointestinal side effects, is being studied in multiple pre-clinical and clinical trial programs in progress for the treatment of rare diseases linked to single gene deficiencies. These include Friedreich’s Ataxia and Mucopolysaccharide (MPS) diseases, as well as partner programs for treatments in pancreatic cancer, Machado-Joseph and Alzheimer’s disease.
JOTROL, which is being developed to remedy resveratrol’s poor bioavailability and dose limiting gastrointestinal side effects, is being studied in multiple pre-clinical and clinical trial programs in progress for the treatment of rare diseases linked to single gene deficiencies. These include Friedreich’s Ataxia and Mucopolysaccharide (MPS) diseases, as well as partner programs for treatments in pancreatic cancer, Machado-Joseph and Alzheimer’s disease.
Sunday, January 8, 2017
Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging
Dayan M., Olivito G., Molinari M., Cercignani M., Bozzali M., Leggio M.,Functional Neurology 2016; 31(3)
Structural and dMRI data of seven patients with cerebellar atrophy (2 with spinocerebellar atrophy type 2, 1 with Friedreich’s ataxia, 4 with idiopathic cerebellar ataxia) and no visible cortical lesions or cortical atrophy were investigated with Freesurfer and voxel-based morphometry (VBM) of gray matter (GM) as well as MCP and SCP FA maps. The significant difference in the MCP and SCP dMRI metrics between patients and controls as well as the significant correlation with ataxia total score and subscores support the use of dMRI metrics as an imaging biomarker for cerebellar degeneration and ataxia.
Structural and dMRI data of seven patients with cerebellar atrophy (2 with spinocerebellar atrophy type 2, 1 with Friedreich’s ataxia, 4 with idiopathic cerebellar ataxia) and no visible cortical lesions or cortical atrophy were investigated with Freesurfer and voxel-based morphometry (VBM) of gray matter (GM) as well as MCP and SCP FA maps. The significant difference in the MCP and SCP dMRI metrics between patients and controls as well as the significant correlation with ataxia total score and subscores support the use of dMRI metrics as an imaging biomarker for cerebellar degeneration and ataxia.
Saturday, January 7, 2017
A new case of complete primary cerebellar agenesis: clinical and imaging findings in a living patient
Feng Yu, Qing-jun Jiang, Xi-yan Sun, Rong-wei Zhang; Brain, Volume 138, Issue 6, 1 June 2015 DOI:10.1093/brain/awu239
DON’T mind the gap. A woman has reached the age of 24 without anyone realising she was missing a large part of her brain. The case highlights just how adaptable the organ is. Woman of 24 found to have no cerebellum in her brain, however, in this woman, the missing cerebellum resulted in only mild to moderate motor deficiency, and mild speech problems such as slightly slurred pronunciation. Her doctors describe these effects as “less than would be expected”, and say her case highlights the remarkable plasticity of the brain.
Cerebellar agenesis is an extremely rare condition implying complete absence of the cerebellum.
DON’T mind the gap. A woman has reached the age of 24 without anyone realising she was missing a large part of her brain. The case highlights just how adaptable the organ is. Woman of 24 found to have no cerebellum in her brain, however, in this woman, the missing cerebellum resulted in only mild to moderate motor deficiency, and mild speech problems such as slightly slurred pronunciation. Her doctors describe these effects as “less than would be expected”, and say her case highlights the remarkable plasticity of the brain.
Cerebellar agenesis is an extremely rare condition implying complete absence of the cerebellum.
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