C9orf72; abnormal RNA expression is the key

C9orf72; abnormal RNA expression is the key. Peter Heutink, Iris E. Jansen, Emily M. Lynes, Experimental Neurology, Available online 27 May 2014, ISSN 0014-4886, http://dx.doi.org/10.1016/j.expneurol.2014.05.020.

Despite differences with Friedreich's ataxia, hexanucleotide repeat instead of trinucleotide repeat...., it could be many points in common with the FA, as the loss of protein expression and toxic RNA species. It is interesting the authors's hypothesis about the mechanisms leading to pathology.

Low Bone Mineral Density in Friedreich Ataxia.

Low Bone Mineral Density in Friedreich Ataxia. Eigentler A1, Nachbauer W, Donnemiller E, Poewe W, Gasser RW, Boesch S.; Cerebellum. 2014 May 25. [Epub ahead of print]

Managing Dysphagia Through Diet Modifications

Managing Dysphagia Through Diet Modifications. Garcia, Jane Mertz PhD, CCC-SLP; Chambers, Edgar IV PhD; AJN, American Journal of Nursing: November 2010 - Volume 110 - Issue 11 - pp 26-33; doi: 10.1097/01.NAJ.0000390519.83887.02

Keywords: dysphagia, impaired swallowing, dietary modification, malnutrition, aspiration pneumonia

Tissue specificity in DNA repair: lessons from trinucleotide repeat instability

Tissue specificity in DNA repair: lessons from trinucleotide repeat instability. Vincent Dion; Trends in Genetics, Available online 16 May 2014, ISSN 0168-9525, http://dx.doi.org/10.1016/j.tig.2014.04.005.

Keywords: DNA repair; genome stability; trinucleotide repeat instability; base excision repair; single-strand break repair; nucleotide excision repair; tissue-specific DNA repair

Gene therapy protects heart in Friedreich's ataxia

Gene therapy protects heart in Friedreich's ataxia. Alexandra Flemming; Nature Reviews Drug Discovery (2014); doi:10.1038/nrd4346; Published online 23 May 2014

Herzbeteiligung bei Friedreich-Ataxie / Heart involvement in Friedreich's ataxia.

Herzbeteiligung bei Friedreich-Ataxie / Heart involvement in Friedreich's ataxia. Weidemann F, Scholz F, Florescu C, Liu D, Hu K, Herrmann S, Ertl G, Störk S.; Herz. 2014 May 23. DOI 10.1007/s00059-014-4097-y

[Article in German]

Keywords: Mitochondriale Funktion, Pathophysiologie, Frataxin, Kardiomyopathie, Herzinsuffizienz, Mitochondrial function, Pathophysiology, Frataxin, Cardiomyopathy, Heart failure

Spécificités de la prise en charge anesthésique chez les patients souffrant de maladie neurologique : éclairage sur l’anesthésie locorégionale/Anaesthetic management of patient with neurological disease: Focus on regional anaesthesia

Spécificités de la prise en charge anesthésique chez les patients souffrant de maladie neurologique : éclairage sur l’anesthésie locorégionale; Jean-Marc Malinovsky, Armine Hamidi, Chantal Lelarge, Catherine Boulay-Malinovsky, La Presse Médicale, Available online 20 May 2014, ISSN 0755-4982, http://dx.doi.org/10.1016/j.lpm.2013.11.028.

Anaesthetic management of patient with neurological disease: Focus on regional anaesthesia

Maladie de Friedreich: Les anesthésies locorégionales ne sont pas contre-indiquées et l’efficacité des anesthésies périmédullaires a déjà été rapportée.

Ophthalmic manifestations of inherited neurodegenerative disorders.

Ophthalmic manifestations of inherited neurodegenerative disorders. Kersten HM, Roxburgh RH, Danesh-Meyer HV; Nature Reviews Neurology (2014); doi:10.1038/nrneurol.2014.79; Published online 20 May 2014

Until recently, ocular motor abnormalities were the best-characterized signs of visual system damage in patients with FRDA, although afferent visual pathway abnormalities, including optic neuropathy, have also been described in up to two-thirds of affected individuals.

Epigenetic-based therapies for Friedreich ataxia

Epigenetic-based therapies for Friedreich ataxia. Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S and Pook MA. Front. Genet. 5:165. doi: 10.3389/fgene.2014.00165

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A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia

A longitudinal VBM study monitoring treatment with erythropoietin in patients with Friedreich ataxia. Wolfram Santner, Michael Schocke, Sylvia Boesch, Wolfgang Nachbauer and Karl Egger; Acta Radiologica Short Reports May 2014 3: 2047981614531573, first published on May 12, 2014 doi:10.1177/2047981614531573

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Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation

Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation. Martelli A and Puccio H (2014). Front. Pharmacol. 5:130. doi: 10.3389/fphar.2014.00130

Keywords: Friedreich Ataxia, frataxin, iron metabolism, iron-sulfur cluster, Mitochondria, Iron Metabolism Disorders

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Project Information:IRON IN THE PATHOGENESIS OF FRIEDREICH'S ATAXIA

Project Information:IRON IN THE PATHOGENESIS OF FRIEDREICH'S ATAXIA. Research Portfolio Online Reporting Tools (NIH), Project Number:5R01NS069454-05; Project Leader: KOEPPEN, ARNULF HANS-WERNER, Awardee Organization: ALBANY RESEARCH INSTITUTE, INC.

Project Information: TUNABLE FRATAXIN REPLACEMENT THERAPY

Project Information: TUNABLE FRATAXIN REPLACEMENT THERAPY . Research Portfolio Online Reporting Tools (NIH), Project Number:1R43NS087730-01; Project Leader: MENDELSOHN, ANDREW R, Awardee Organization: PANORAMA RESEARCH, INC.

PATENT: DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA

DIAGNOSIS AND TREATMENT OF FRIEDREICH'S ATAXIA . Bibliographic data: US2014128455 (A1) ― 2014-05-08

Inventor(s): ZAIN-LUQMAN RULA [SE]; BERGQUIST HELEN [SE]; GOOD LIAM [GB] +

Shining a light in the black box of orphan drug pricing

Shining a light in the black box of orphan drug pricing.
Eline Picavet, Thomas Morel, David Cassiman and Steven Simoens; Orphanet Journal of Rare Diseases 2014, 9:62 doi:10.1186/1750-1172-9-62

This study has shown that prices of orphan drugs are influenced by factors such as the availability of an alternative drug treatment, repurposing, etc. Current debate about the affordability of orphan drugs highlights the need for more transparency in orphan drug price setting.

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Mitochondrial dysfunction affecting visual pathways

Mitochondrial dysfunction affecting visual pathways. S. Leruez, P. Amati-Bonneau, C. Verny, P. Reynier, V. Procaccio, D. Bonneau, D. Milea, Revue Neurologique, Available online 3 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2014.03.009.

Keywords: Hereditary optic neuropathy; Leber's hereditary optic neuropathy; Autosomal dominant optic atrophy; Wolfram syndrome; Toxic mitochondrial optic neuropathies; Neuropathie optique héréditaire; Neuropathie optique héréditaire de Leber; Atrophie optique dominante; Syndrome de Wolfram; Neuropathies optiques mitochondriales toxiques; Friedreich's ataxia

Perspectives of drug-based neuroprotection targeting mitochondria

Perspectives of drug-based neuroprotection targeting mitochondria, V. Procaccio, C. Bris, J.M. Chao de la Barca, F. Oca, A. Chevrollier, P. Amati-Bonneau, D. Bonneau, P. Reynier, , Revue Neurologique, Available online 1 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2014.03.005.

Keywords: Mitochondria; Mitochondrial diseases; Neurodegenerative disorders; Pharmacological neuroprotection; Mitochondrie; Maladies mitochondriales; Maladies neurodégénératives; Neuroprotection pharmacologique; ADAlzheimer's disease; AICAR5-aminoimidazole-4-carboxamide ribonucleoside; ALSAmyotrophic lateral sclerosis; AMPAdenosine monophosphate; ATPAdenosine triphosphate; cAMPCyclic AMP; CCCPCarbonylcyanide m-chlorophenylhydrazone; CNSCentral nervous system; ERREstrogen-related receptors; ETCElectron transport chain; FAD/FADHFlavin adenine nucleotide; GDAP1Ganglioside-induced differentiation-associated protein 1; HDHuntington disease; KTPKinetin triphosphate; LHONLeber hereditary optic neuropathy; MAPKMitogen-activated protein kinases; MELASMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRFMyoclonic epilepsy and ragged red fibers; MFN1/MFN2Mitofusin; MnSODManganese superoxide dismutase; mtDNAMitochondrial genome or DNA; mtPTPMitochondrial permeability transition pore; mTORMammalian target of rapamycin; NAD/NADHNicotinamide adenine dinucleotide; NARPNeurogenic muscle weakness, ataxia, and retinitis pigmentosa; nDNANuclear genome or DNA; NMDAAcide N-methyl-D-aspartic; NOSNitric oxide synthase; NRF1/NRF2Nuclear respiratory factors; OPA1Optic atrophy 1; OXPHOSOxidative phosphorylation; PARLPresenilins-associated rhomboid-like protein; PDParkinson's disease; PGC-1-αPPAR gamma coactivator 1-alpha; PINK1PTEN-induced putative kinase1; PKAProtein kinase A; PPARPeroxisome proliferators-activated receptors; PRCPGC1-related coactivator; CoQCoenzyme Q; RCRespiratory chain; ROSReactive oxygen species; RXRRetinoid X receptors; SIRTSirtuins; TFAMMitochondrial transcription factor A; TFB2/TFB2Transcription factors B1 and B2

Genetics of mitochondrial respiratory chain deficiencies

Genetics of mitochondrial respiratory chain deficiencies, A. Rötig, Revue Neurologique, Available online 3 May 2014, ISSN 0035-3787, http://dx.doi.org/10.1016/j.neurol.2013.11.006.

Keywords: Genetic diseases; Mitochondria; Respiratory chain; Mitochondrie; Chaîne respiratoire; Maladies génétiques

The brain is hypothermic in patients with mitochondrial diseases

The brain is hypothermic in patients with mitochondrial diseases. Mario Rango, Andrea Arighi, Cristiana Bonifati, Roberto Del Bo, Giacomo Comi and Nereo Bresolin; Journal of Cerebral Blood Flow & Metabolism (2014) 34, 915–920; doi:10.1038/jcbfm.2014.38; published online 12 March 2014

Keywords: activation; brain metabolism; brain temperature; mitochondrial diseases; recovery; visual stimulation

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome

R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome . Groh M, Lufino MMP, Wade-Martins R, Gromak N; PLoS Genet 10(5): e1004318. doi:10.1371/journal.pgen.1004318

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Nicotinamide in Friedreich's ataxia: useful or not?

Nicotinamide in Friedreich's ataxia: useful or not?. The Lancet, Available online 30 April 2014, ISSN 0140-6736, http://dx.doi.org/10.1016/S0140-6736(14)60573-0.

Comment

Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment

Re-activating the Friedreich’s ataxia gene in patients: early promise for a radical treatment Ataxia-UK Press release: 1st May 2014

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study. Vincenzo Libri MD,Cihangir Yandim PhD,Stavros Athanasopoulos MD,Naomi Loyse PhD,Theona Natisvili MSc,Pui Pik Law MSc,Ping Kei Chan PhD,Tariq Mohammad MBBS,Marta Mauri MSc,Kin Tung Tam BSc,James Leiper PhD,Sophie Piper MSc,Aravind Ramesh BM BCh,Michael H Parkinson MBBS,Les Huson PhD,Paola Giunti MD,Prof Richard Festenstein FRCP. The Lancet - 1 May 2014; DOI: 10.1016/S0140-6736(14)60382-2

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia

Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia. C. Bonilha da Silva, F. P. G. Bergo, A. D'Abreu, F. Cendes, I. Lopes-Cendes and M. C. França Jr, European Journal of Neurology. Article first published online: 30 APR 2014 | DOI: 10.1111/ene.12448

Keywords: dentate nuclei; Friedreich's ataxia; MRI ; T2 relaxometry