Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions

PLoS Biol 10(2): e1001257. doi:10.1371/journal.pbio.1001257

Kim Debacker#, Aisling Frizzell#, Olive Gleeson, Lucy Kirkham-McCarthy, Tony Mertz, Robert S. Lahue*
Centre for Chromosome Biology, School of Natural Sciences, National University of Ireland Galway, Galway, Ireland

OPEN ACCESS

Currently some researchers and pharmaceutical labs are testing HDACi for relief of the transcription-related consequences of expansions in triplet expansion diseases, they may also have the beneficial side effect of reducing the risk of further somatic expansion.

Full text pdf

Mitochondrial disorders: a review of anesthetic considerations

Middle East Journal of Anesthesiology, (M.E.J. ANESTH 21 (2), 2011), 02/20/2012

HERODOTOS ELLINAS* AND ELIZABETH A.M. FROST**,
* Assistant Professor, Department of Anesthesiology, Medical College of Wisconsin, Milwaukee, WI.
** Professor of Anesthesia, Mount Sinai Medical Center, New York, NY.

FULL TEXT PDF

Discussions about treatment restrictions in chronic neurologic diseases: A structured review

Neurology February 21, 2012 78:590-597

Antje A. Seeber, Albert Hijdra, Marinus Vermeulen, and Dick L. Willems
Department of Neurology (A.A.S., A.H., and M.V.) and Department of Medical Ethics, Division of Public Health & Epidemiology (A.A.S. and D.L.W.), Academic Medical Center, University of Amsterdam, the Netherlands.

Anticipation of such situations may be beneficial for patients and their families.

Uses of the postural stability test for differential diagnosis of hereditary ataxias.

J Neurol Sci. 2012 Feb 13. http://dx.doi.org/10.1016/j.jns.2012.01.022.

J. Schwabova a, F. Zahalka c, V. Komarek b, T. Maly c, P. Hrasky c, T. Gryc c, O. Cakrt d, A. Zumrova b

a Department of Neurology, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic
b Department of Paediatric Neurology, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic
c Research Sport Center, Charles University in Prague, Faculty of Physical Education and Sport, Jose Martího 31, Prague 6, 162 52, Czech republic
d Department of Rehabilitation and Sport Medicine, Charles University in Prague, 2nd Faculty of Medicine and the Motol University Hospital, V Úvalu 84, Prague 5, 150 06, Czech republic

Keywords: Friedreich's ataxia (FRDA), spinocerebellar ataxia type 2 (SCA 2), posturographic examination, differential diagnosis.

The Autosomal Recessive Cerebellar Ataxias

N Engl J Med 2012; 366:636-646, February 16, 2012

Mathieu Anheim, M.D., Ph.D., Christine Tranchant, M.D., and Michel Koenig, M.D., Ph.D.

Review Article

Substantia nigra hypoechogenicity in Friedreich ataxia.

Mov Disord 2012 Feb; 27(2):332-3.DOI: 10.1002/mds.23989

Stockner H, Sojer M, Hering S, Nachbauer W, Seppi K, Schmidauer C, Poewe W, Boesch SM
Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.

No abstract is available for this article.

Histone deacetylase inhibition activates transcription factor Nrf2 and protects against cerebral ischemic damage.

Free Radic Biol Med. Volume 52, Issue 5, 1 March 2012, Pages 928–936, http://dx.doi.org/10.1016/j.freeradbiomed.2011.12.006

Wang B, Zhu X, Kim Y, Li J, Huang S, Saleem S, Li RC, Xu Y, Dore S, Cao W.

Nanjing University Medical School, Jiangsu Key Lab of Molecular Medicine,
Nanjing, People's Republic of China; Department of Anesthesiology and Critical
Care Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205,
USA.

Keywords: histone deacetylase (HDAC), neuroprotection, multiple mechanisms, modulation of transcription, Nrf2, stroke, antioxidant-responsive genes, activation of Nrf2.

Cognitive function in Friedreich's ataxia patients in Ireland

J Neurol Neurosurg Psychiatry 2012;83:e1 doi:10.1136/jnnp-2011-301993.43

C Albertyn, N Austin, R P Murphy
Adelaide and Meath Hospital, Dublin, Ireland

Keywords: Friedreich's ataxia (FRDA), cognitive function, genetically confirmed FRDA patients, age of onset, duration of symptoms, Friedreich's ataxia rating scale (FARS) score, neuropsychological test battery assessed immediate and delayed verbal memory, visuospatial perception, confrontational naming, non-verbal memory, attention and concentration, premorbid intellect, executive function, cognitive speed.

Determination of Idebenone in Plasma by HPLC with Post -Column Fluorescence Derivatization using 2-Cyanoacetamide

Chem Pharm Bull, Regular Article, Analytical Chemistry

Yukio NOHARA a, Junko SUZUKI b, Yoji YAMAZAKI a, Hiroaki KUBO a.
a Faculty of Pharmacy, Iwaki Meisei University, Iwaki, Fukushima 970-8551, Japan
b School of Pharmacy, Kitasato University, Minato-ku, Tokyo 108-8641, Japan

Keywords: Idebenone, Friedreich’s ataxia, 2-cyanoacetamide, fluorescence, HPLC with post-column fluorescence derivatization, human blood plasma, finger prick.

New website: NIH Clinical Research Trials and You

The National Institutes of Health has created a new website, NIH Clinical Research Trials and You to help people learn more about clinical trials, why they matter, and how to participate.

GO to the new website