Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Nicole I. Wolf, Michel Koenig; Handbook of Clinical Neurology, Volume 113, 2013, Pages 1869–1878; Pediatric Neurology Part III. http://dx.doi.org/10.1016/B978-0-444-59565-2.00057-5

The hereditary ataxias with onset in childhood are a group of heterogeneous disorders, usually with autosomal recessive inheritance. In many of them, magnetic resonance imaging (MRI) shows cerebellar atrophy. The most prominent exception to this is Friedreich's ataxia, where MRI shows normal cerebellar volume, but sometimes spinal cord atrophy.

HEART FAILURE BURDEN IN CHILDREN AND ADULTS WITH FRIEDREICH ATAXIA

HEART FAILURE BURDEN IN CHILDREN AND ADULTS WITH FRIEDREICH ATAXIA . Carol Wittlieb-Weber, Joseph Rossano, David Lynch, Kimberly Lin; Journal of the American College of Cardiology, Volume 63, Issue 12, Supplement, 1 April 2014, Pages A835; http://dx.doi.org/10.1016/S0735-1097(14)60835-4

"Attention to the degree of cardiac involvement is critical in the management of patients with FA."

Effects of cytosine methylation on transcription factor binding sites

Effects of cytosine methylation on transcription factor binding sites. Yulia A Medvedeva, Abdullah M Khamis, Ivan V Kulakovskiy, Wail Ba-Alawi1, Md Shariful I Bhuyan, Hideya Kawaji, Timo Lassmann, Matthias Harbers, Alistair RR Forrest, Vladimir B Bajic and The FANTOM consortium; BMC Genomics 2014, 15:119 doi:10.1186/1471-2164-15-119

OPEN ACCESS, FULL TEXT

Keywords: DNA methylation; Transcription factor binding sites; Transcriptional regulation; CAGE; RRBS; CpG “traffic lights”; Bioinformatics; Computational biology

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter

Rescue of the Friedreich Ataxia Knockout Mutation in Transgenic Mice Containing an FXN-EGFP Genomic Reporter . Joseph P. Sarsero, Timothy P. Holloway, Lingli Li, David I. Finkelstein, Panos A. Ioanno; PLoS ONE 9(3): e93307. doi:10.1371/journal.pone.0093307

OPEN ACCESS, FULL TEXT PDF

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia

Novel Point Mutations in Frataxin Gene in Iranian Patients with Friedreich’s Ataxia. Heidari MM , Khatami M, Pourakrami J.; Iran J Child Neurol. 2014 Winter; 8(1):32-36.

Three novel point mutations were found in patients heterozygous for the GAA repeat expansion, p.S81A, p.Y123D, and p.S192C.

Biogen, Atlas Venture latest effort to develop treatment for ataxia

Biogen, Atlas Venture latest effort to develop treatment for ataxia

Ataxion has raised $17 million in a Series A round to develop treatments for inherited versions of the disease from Atlas Venture and Biogen.

It reflects a broader life sciences industry trend of developing treatments for orphan diseases because there’s a higher barrier to entry and it allows companies to keep exclusivity for longer periods of time than conditions with larger patient populations.

FDA Awards Fast Track Status to Edison Pharmaceuticals' EPI-743 for Friedreich's Ataxia

FDA Awards Fast Track Status to Edison Pharmaceuticals' EPI-743 for Friedreich's Ataxia. MOUNTAIN VIEW, Calif., March 17, 2014 /PRNewswire/

Edison Pharmaceuticals today announced that the FDA granted Fast Track designation to EPI-743. The FDA has previously granted Orphan designation status to EPI-743 for the treatment of Friedreich's ataxia. Fast Track program provides a number of benefits to accelerate the development, FDA's Fast Track is designed to facilitate the development of drugs that have demonstrated potential to treat diseases that are serious, life threatening, and for which there is an unmet medical need.

FARA PRESS RELEASE

Description et comparaison du phénotype des Friedreich typiques, de début tardif, et de début très tardif

Description et comparaison du phénotype des Friedreich typiques, de début tardif, et de début très tardif. C. Lecocq, K. Nguyen, J.-P. Azulay, A. Dürr, M. Pandolfo, C. Tranchant, M. Anheim; Revue Neurologique, Volume 170, Supplement 1, April 2014, Pages A149. Journées de Neurologie de langue française 2014. DOI: http://dx.doi.org/10.1016/j.neurol.2014.01.397

La maladie de Friedreich doit être évoquée de principe et recherchée génétiquement devant toute ataxie cérébelleuse y compris en présence de phénotype atypique, d’âge de début tardif ou d’IRM cérébrale normale.

Profils génétiques et cliniques des ataxies cérébelleuses autosomiques récessives en Tunisie

Profils génétiques et cliniques des ataxies cérébelleuses autosomiques récessives en Tunisie. E. Hentati, H. Nahdi, G. El Euch, Y. Bouhlel, M. Ben Hamed, F. Hentati, R. Amouri; Revue Neurologique, Volume 170, Supplement 1, April 2014, Pages A151; Journées de Neurologie de langue française 2014. DOI: http://dx.doi.org/10.1016/j.neurol.2014.01.402

La deuxième ataxie fréquente en Tunisie était l’ataxie de Friedreich avec un pourcentage de 31,12 %.

Les mouvements anormaux dans les ataxies cérébelleuses héréditaires

Les mouvements anormaux dans les ataxies cérébelleuses héréditaires. M. Anheim; Revue Neurologique, Volume 170, Supplement 1, April 2014, Pages A241–A242; Journées de Neurologie de langue française 2014. DOI: http://dx.doi.org/10.1016/j.neurol.2014.01.552

Les mouvements anormaux oculaires sont également cruciaux, qui confirment l’atteinte cérébelleuse et orientent parfois de façon décisive le diagnostic étiologique (NPC, AT, AOA1, Friedreich, SCA)

Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease

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

Full Text Pdf

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)

Full text pdf

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.

OPEN ACCESS FULL TEXT PDF

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