Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease. Isaya G; Front Pharmacol. 2014 Mar 3;5:29. eCollection 2014. doi: 10.3389/fphar.2014.00029
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Saturday, March 15, 2014
Friday, March 14, 2014
Coenzyme Q10 Therapy
Coenzyme Q10 Therapy; Garrido-Maraver J., Cordero M.D., Oropesa-Ávila M., Fernández Vega A., de la Mata M., Delgado Pavón A., de Miguel M., Pérez Calero C., Villanueva Paz M., Cotán D., Sánchez-Alcázar J.A; Molecular Syndromology, Online First (DOI:10.1159/000360101)
KEYWORDS: mitochondrial bioenergetics, subcellular fractions, blood plasma, antioxidant role, clinical use.
Tuesday, March 11, 2014
The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies
The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies. Ruano L., Melo C., Silva M.C., Coutinho P.; Neuroepidemiology 2014;42:174-183 (DOI:10.1159/000358801)
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Friday, March 7, 2014
Neuroprotective activity of peripherally administered liver growth factor in a rat model of Parkinson’s disease.
Neuroprotective activity of peripherally administered liver growth factor in a rat model of Parkinson’s disease. Gonzalo-Gobernado R, Calatrava-Ferreras L, Reimers D, Herranz AS, Rodríguez-Serrano M, Miranda C, Jiménez-Escrig A, Díaz-Gil JJ, Bazán E; PLoS One. 2013 Jul 4;8(7):e67771.
Actually, we intend to determine whether LGF which has a demonstrated antioxidant and neuroprotective capability, could be a useful therapy for Friedreich’ ataxia (FA). Results show that LGF treatment stimulates frataxin immunoreactivity and frataxin protein expression in CNS and heart of FXNtm1MknTg (FXN)YG8Pook FA transgenic mice. Besides, LGF significantly improves oxidative stress in squeletal muscle, suggesting that LGF could be a promising treatment for FA.
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Actually, we intend to determine whether LGF which has a demonstrated antioxidant and neuroprotective capability, could be a useful therapy for Friedreich’ ataxia (FA). Results show that LGF treatment stimulates frataxin immunoreactivity and frataxin protein expression in CNS and heart of FXNtm1MknTg (FXN)YG8Pook FA transgenic mice. Besides, LGF significantly improves oxidative stress in squeletal muscle, suggesting that LGF could be a promising treatment for FA.
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Sunday, March 2, 2014
Preimplantation genetic diagnosis
Preimplantation genetic diagnosis. Pensée Wu, Margo L. Whiteford, Alan D. Cameron; Obstetrics, Gynaecology & Reproductive Medicine, Volume 24, Issue 3, March 2014, Pages 67-73, ISSN 1751-7214, http://dx.doi.org/10.1016/j.ogrm.2014.01.003.
Keywords: in vitro fertilization; preimplantation genetic diagnosis; preimplantation genetic screening.
In the case of an autosomal recessive disorder, there is a one in four chance of an affected child with carrier parents. Most couples only become aware that both partners have a pathological mutation following clinical diagnosis and genetic testing of an affected child. Common PGD indication for autosomal recessive disorder is Friedreich's ataxia.
Keywords: in vitro fertilization; preimplantation genetic diagnosis; preimplantation genetic screening.
In the case of an autosomal recessive disorder, there is a one in four chance of an affected child with carrier parents. Most couples only become aware that both partners have a pathological mutation following clinical diagnosis and genetic testing of an affected child. Common PGD indication for autosomal recessive disorder is Friedreich's ataxia.
Saturday, March 1, 2014
TREATMENT OF MITOCHONDRIAL DISEASES WITH VITAMIN K
TREATMENT OF MITOCHONDRIAL DISEASES WITH VITAMIN K. JANKOWSKI ORION D, ; HINMAN ANDREW W, ; MILLER GUY M); Patent US2014031432 (A1) ― 2014-01-30
Methods of treating, preventing or suppressing symptoms associated with mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), dominant optic atrophy (DOA); mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Leigh syndrome or Kearns-Sayre Syndrome (KSS) with vitamin K are disclosed.
Methods of treating, preventing or suppressing symptoms associated with mitochondrial diseases, such as Friedreich's ataxia (FRDA), Leber's Hereditary Optic Neuropathy (LHON), dominant optic atrophy (DOA); mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELAS), Leigh syndrome or Kearns-Sayre Syndrome (KSS) with vitamin K are disclosed.
Los pacientes se convierten en los nuevos mecenas
Los pacientes se convierten en los nuevos mecenas. David Guerrero, EL MUNDO,28/02/2014
Wednesday, February 26, 2014
Patients are the new patrons
Patients are the new patrons. IRB Barcelona in the media, 25 February 2014.
The Innovadores supplement of today’s El Mundo reports on the funding that Ernest Giralt’s group has received from Genefa, the association of patients with Friedreich's ataxia, to study this rare disease. The report explains how patients and scientists have come together to undertake a new scientific project.
The Innovadores supplement of today’s El Mundo reports on the funding that Ernest Giralt’s group has received from Genefa, the association of patients with Friedreich's ataxia, to study this rare disease. The report explains how patients and scientists have come together to undertake a new scientific project.
Monday, February 24, 2014
Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)
Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). ClinicalTrials.gov Identifier: NCT02069509
Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms
Oral-Diadochokinesis Rates across Languages: English and Hebrew Norms. Michal Icht, Boaz M. Ben-David; Journal of Communication Disorders, Available online 23 February 2014. http://dx.doi.org/10.1016/j.jcomdis.2014.02.002
Oral-Diadochokinesis has been used to evaluate the presence and severity of neurological impairments. Inaccurate, inconsistent or an abnormal oral-DDK performance might indicate disorders of the central nervous system or peripheral sensory motor functions.
Spinocerebellar ataxia, Parkinson’s disease and Friedreich’s ataxia (both presenting orofacial motor impairments,were characterized with reduced Oral-Diadochokinesis scores.
Oral-Diadochokinesis has been used to evaluate the presence and severity of neurological impairments. Inaccurate, inconsistent or an abnormal oral-DDK performance might indicate disorders of the central nervous system or peripheral sensory motor functions.
Spinocerebellar ataxia, Parkinson’s disease and Friedreich’s ataxia (both presenting orofacial motor impairments,were characterized with reduced Oral-Diadochokinesis scores.
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