Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly.

J Biol Chem. 2010 Oct 2. [Epub ahead of print]

Gakh O, Bedekovics T, Duncan SF, Smith DY 4th, Berkholz DS, Isaya G.
Mayo Clinic, United States.

Keywords: frataxin (FXN), Fe-S cluster, FXN mRNA, FXN42-210, FXN81-210, levels of both isoforms are relevant, FXN81-210/FXN42-210 molar ratio, replacement therapies.

PGC-1 Coactivators in Cardiac Development and Disease

Circulation Research. 2010;107:825-838
doi: 10.1161/CIRCRESAHA.110.223818

Daniel P. Kelly, Guest Editor
Glenn C. Rowe, Aihua Jiang, Zolt Arany

From the Cardiovascular Institute at the Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Mass.

Key Words: PGC-1 • metabolism • heart failure • mitochondria

Progress and prospects: stem cells and neurological diseases

Gene Therapy , (30 September 2010) | doi:10.1038/gt.2010.130

S Gögel, M Gubernator and S L Minger

Review.

Keywords: central nervous system, degenerative neurological conditions, Parkinson's disease (PD), Alzheimer's disease, Huntington's disease (HD), cerebrovascular damage (for example, stroke), spinal cord injury, transplantation of stem cells, stem cell-derived progenitors, induced pluripotent stem cells.

Spinal convergence of motor and sensory pathways

Nature Neuroscience 13, 1160 (2010)
Published online: 27 September 2010 | doi:10.1038/nn1010-1160

Min Cho

KEYWORDS: motor execution, proprioceptive sensory feedback, motor command.

Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex

Biochemistry, Just Accepted Manuscript
Publication Date (Web): September 27, 2010

Chi-Lin Tsai and David P. Barondeau, Department of Chemistry, Texas A&M
University, College Station, TX 77842, USA.

Full text pdf

Scientists Discover Gene That Controls Stem Cells In Central Nervous System

Medical News Today, 27 Sep 2010

"With the knowledge that the gene Sox9 plays a central role in the development of our nervous system, we are one step closer to being able to control stem cells in the brain and regenerate different kinds of nerve cells." ....read more....

Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich's Ataxia.

Cerebellum. 2010 Sep 24.

Synofzik M, Godau J, Lindig T, Schöls L, Berg D.

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Tübingen, Germany.

KEYWORDS: Friedreich's ataxia (FA), restless legs syndrome (RLS), multisystemic network dysfunction, peripheral neuropathy, disturbances in subcellular brain iron homeostasis.

Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia.

Cerebellum. 2010 Sep 24.

Velasco-Sánchez D, Aracil A, Montero R, Mas A, Jiménez L, O'Callaghan M, Tondo M, Capdevila A, Blanch J, Artuch R, Pineda M.

Cardiology Department, Sant Joan de Déu Hospital and the University of Barcelona, 2, Passeig Sant Joan de Déu, 08950 Esplugues, Barcelona, Spain

KEYWORDS: Iron chelators,Friedreich's ataxia, mitochondrial iron pools, neurological signs, cardiac function parameters, prospective open-label single-arm study, idebenone (20 mg/kg/day), deferiprone (20 mg/kg/day), International Cooperative Ataxia Rating Scale (ICARS) scores, echocardiographic measurements, MRI (magnetic resonance imaging) techniques, neutropenia, progressive reduction of plasma iron parameters.

Auszeichnung für neuen Therapieansatz bei Morbus Friedreich an MedUni Wien

Medizinische Universität Wien

(Wien, 21-09-2010) Barbara Scheiber-Mojdehkar und Brigitte Sturm vom Zentrum für Pathobiochemie und Genetik der MedUni Wien haben einen völlig neuen Therapieansatz zur Behandlung der neurodegenerativen Krankheit Friedreichs Ataxie entdeckt und dafür die Goldmedaille bei der Korea International Women`s Invention Exposition KIWIE 2010 erhalten. Heute fand die Überreichung durch Bundesministerin Dr.in Beatrix Karl statt.

"Award for new approach in the treatment of Friedreich's Disease by Medical University of Vienna"

Keyword: Iron chelators, neurodegenerative disease, Friedreich's ataxia, mitochondrial protein frataxin, erythropoietin.

The Impact of the Orphan Drug Act on the Development and Advancement of Neurological Products for Rare Diseases: A Descriptive Review

Clinical Pharmacology & Therapeutics (2010) 88 4, 449–453. doi:10.1038/clpt.2010.193

K A Burke1, S N Freeman1, M A Imoisili1 and T R Coté1
1Office of Orphan Products Development, US Food and Drug Administration, Silver Spring, Maryland, USA