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.

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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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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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.

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.

Los pacientes se convierten en los nuevos mecenas

Los pacientes se convierten en los nuevos mecenas. David Guerrero, EL MUNDO,28/02/2014

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.

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

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.

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models

Generation and Characterisation of Friedreich Ataxia YG8R Mouse Fibroblast and Neural Stem Cell Models . Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A. Pook; PLoS ONE 9(2): e89488. doi:10.1371/journal.pone.0089488

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