Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications.

Am J Obstet Gynecol. 2010 May 15

Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, Lynch DR.

Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and Children's Hospital of Philadelphia.

Keywords: Friedreich ataxia (FRDA), pregnancy, spontaneous abortion, preeclampsia, preterm birth.

Neuroprotective Multifunctional Iron Chelators: From Redox-Sensitive Process to Novel Therapeutic Opportunities

Antioxidants & Redox Signaling. Ahead of print. doi:10.1089/ars.2009.2929.
Online Ahead of Print: May 17, 2010

Orly Weinreb, Tamar Amit, Silvia Mandel, Lana Kupershmidt, Moussa B.H. Youdim. 
Eve Topf Centers of Excellence for Neurodegenerative Diseases Research and Department of Pharmacology, Rappaport Family Research Institute, Technion-Faculty of Medicine, Haifa, Israel.

Keywords:  cytotoxic signals,   neurodegenerative brain, oxidative stress, inflammation, accumulation of iron,  iron chelators,  hydroxyl radical formation,  Fenton reaction, hypoxia-inducible factor-1α (HIF-1α), prolyl-4-hydroxylases (PHDs).

Potential Friedreich's Ataxia Drug Based on Gottesfeld Lab Work Poised to Start Clinical Trials

 NEWS & WIEW, Online weekly of the Scripps Research Institute, Vol 10. Issue 17 / May 17, 2010

"I'm as pleased as can be," said Gottesfeld. "It's wonderful news that our lab's work could be launching human trials for Friedreich's ataxia."

Ocular Motor Fixation Deficits in Friedreich Ataxia.

Cerebellum. 2010 May 15

Hocking DR, Fielding J, Corben LA, Cremer PD, Millist L, White OB, Delatycki MB.

Bruce Lefroy Center for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Keywords: Friedreich ataxia (FRDA),  ocular motor abnormalities, fixation instability, saccadic dysmetria, vestibular dysfunction, gap overlap paradigm,  saccadic latency, cerebellum.

Ataxia with vitamin E deficiency: update of molecular diagnosis.

Neurol Sci. 2010 May 13.

Di Donato I, Bianchi S, Federico A.

Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Viale Bracci, 53100, Siena, Italy.

Keyword: Ataxia with vitamin E deficiency (AVED),  autosomal recessive, neurodegenerative disease, TTPA gene, alpha-TTP, a cytosolic liver protein, alpha-tocopherol.

Repligen Files Investigational New Drug Application with FDA for First Drug Targeting the Core Genetic Defect of Friedreich's Ataxia

WALTHAM, Mass., May 13 /PRNewswire-FirstCall/ -- Repligen Corporation (Nasdaq: RGEN) announced today that it has filed an Investigational New Drug Application (IND) with the Food and Drug Administration (FDA) for a Phase 1 study of RG2833 .......

The role of echocardiographic deformation imaging in hypertrophic myopathies

Nat Rev Cardiol. 2010 May 11

Cikes M, Sutherland GR, Anderson LJ, Bijnens BH; Medscape.

University of Zagreb School of Medicine, Department of Cardiovascular Diseases, University Hospital Center Zagreb, Kispaticeva 12, 10000 Zagreb, Croatia.

Keywords:  Echocardiography, hypertrophic myopathies,  ischemic heart disease, amyloidosis, Fabry disease,  Friedreich ataxia.

Low predisposition to instability of the Friedreich ataxia gene in Cuban population

T C Mariño ^a Y G Zaldivar ^b J M L Mesa ^b L A Mederos ^b R A Rodríguez ^b D A Gotay ^b R R Labrada ^b N C Ochoa ^b P MacLeod ^c L V Pérez ^b

  ^a Center of Medical Genetics, Calle Coliseo Esquina a Mártires, Avenida Cajigal Número 525F2, entre Luz y Progreso, Reparto Luz, Holguín, Cuba ,
  ^b Center for Research and Rehabilitation of Hereditary Ataxias 'Carlos Juan Finlay' (CIRAH), Holguín, Cuba ,
  ^c Division of Medical Genetics, Department of Pathology, Laboratory Medicine and Medical Genetics, Victoria General Hospital, Canada

Tufts Wins $9.5M Stimulus Grant for New Collaborative Cluster in Medford, Mass.

NEW YORK (GenomeWeb News) —

Tufts said its current collaborations include studies in model systems of diseases, such as fragile X mental retardation, Huntington's disease, and Friedreich's ataxia.

Altered lipid metabolism in a Drosophila model of Friedreich's ataxia

Hum. Mol. Genet. (10 May 2010), ddq183.

Juan A. Navarro, Elisabeth Ohmann, Diego Sanchez, Jose A. Botella, Gerhard Liebisch, Maria D. Molto, Maria D. Ganfornina, Gerd Schmitz, Stephan Schneuwly

Keywords:  Friedreich's ataxia (FRDA), mitochondrial protein frataxin,  Drosophila, lipid accumulation, peroxidation, oxidative stress, fatty acids,  glial cells, lipid peroxidation.