Erhaltene Reflexe, Propriozeption, SNAPs: trotzdem Friedreich-Ataxie - [Retained reflexes, proprioception, SNAPs: still Friedreich's ataxia]

Nervenarzt. 2010 Apr;81(4):442-3.
DOI: 10.1007/s00115-010-2946-3

 K. Dimitriadis^{1, 2}, S. Heck², M. Schubert¹ und T. Klopstock^{1, 2} 

(1)	Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, Klinikum der Universität München – Innenstadt, Ziemssenstraße 1a, 80336 München

(2)	Neurologische Klinik und Poliklinik, Klinikum der Universität München – Großhadern, München

 

Article in German

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Repligen Corporation - HDAC-3 Inhibitors for Friedreich's Ataxia

WALTHAM, Mass., April 16, 2010 /PRNewswire via COMTEX/ -- Repligen Corporation

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HDAC-3 Inhibitors for Friedreich's Ataxia
We are currently developing inhibitors of histone deacetylase 3 (HDAC-3) for the treatment of inherited neurodegenerative diseases such as Friedreich's ataxia.  Preclinical studies have shown that specific HDAC-3 inhibitors increase production of the protein frataxin which may have the potential to arrest disease progression in patients with Friedreich's ataxia.  We plan to file an Investigational New Drug Application (IND) for a Phase 1 human clinical study of RG2833 in healthy volunteers this quarter.

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Intermediate-Dose Idebenone and Quality of Life in Friedreich Ataxia

Pediatric Neurology
Volume 42, Issue 5, May 2010, Pages 338-342

n F. Brandsema MD^*, Derek Stephens MSc^†, Jessica Hartley MSc^‡ and Grace Yoon MD^{*, ‡}

^† Department of Child Health Evaluative Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada
^‡ Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada
^* Division of Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Canada

Keywords: Idebenone, Friedreich ataxia, neurologic function, cardiac function, quality of life, 20 mg/kg per day, Pediatric Quality of Life Inventory,  International Cooperative Ataxia Rating Scale,  Activities of Daily Living Scale.

Health-Related Quality of Life in Children With Friedreich Ataxia

Pediatric Neurology
Volume 42, Issue 5, May 2010, Pages 335-337

Erin K. Paulsen BA^a, Lisa S. Friedman BA^a, Lauren M. Myers BA^a and David R. Lynch MD, PhD^{, a,}

^a Departments of Neurology and Pediatrics, University of Pennsylvania School of Medicine, and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

Keywords:  health-related quality of life scales,  Friedreich ataxia, children,  PedsQL 4.0, Multidimensional Fatigue Scale.