Epigenetic mechanisms in neurological disease

Epigenetic mechanisms in neurological disease. Mira Jakovcevski & Schahram Akbarian;Nature Medicine 18, 1194–1204(2012) doi:10.1038/nm.2828. Published online 06 August 2012.

Keywords: epigenomes, DNA methylation, covalent histone modifications, chromatin defects, neurodegenerative disease, neuroepigenetics.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions.

Childhood Ataxia: Clinical Features, Pathogenesis, Key Unanswered Questions, and Future Directions. Ashley CN, Hoang KD, Lynch DR, Perlman SL, Maria BL.J Child Neurol 0883073812448840, first published on August 1, 2012 Keywords: Childhood ataxia, Friedreich ataxia, GAA repeat expansion, frataxin gene, mitochondrial function, reactive oxygen species, iron.

The p53-depen dent expression of frataxin controls 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photo-damage in cancerous cells

The p53-depen dent expression of frataxin controls 5-aminolevulinic acid (ALA)-induced accumulation of protoporphyrin IX and photo-damage in cancerous cells. Mari Sawamoto, Takafumi Imai, Mana Umeda, Koji Fukuda, Takao Kataoka and Shigeru Taketani; Photochemistry and Photobiology. Accepted manuscript online: 3 AUG 2012 02:40AM EST | DOI: 10.1111/j.1751-1097.2012.01215.x Keyword: Mitochondrial frataxin, iron homeostasis, iron-sulfur cluster biogenesis, oxidative stress, apoptosis, tumor suppressor, p53-dependent, heme biosynthesis, 5-aminolevulinic acid (ALA).

Ethical Considerations in Orphan Drug Approval and Use

Ethical Considerations in Orphan Drug Approval and Use. A S Kesselheim. Clinical Pharmacology & Therapeutics (2012); 92 2, 153–155. doi:10.1038/clpt.2012.92  

We conclude that small studies of appropriate design can support US FDA approval of new medicines for rare diseases.

Posturographie

Posturographie. Dagmar Timmann-Braun. Das Neurophysiologie-Labor, Available online 12 July 2012, DOI: http://dx.doi.org/10.1016/j.neulab.2012.05.001

Keywords: static posturography, dynamic posturography, computerized posturography, sensory organization test, postural responses.

Sniffing out the cerebellum

Sniffing out the cerebellum. Henry Houlden, J Neurol Neurosurg Psychiatry doi:10.1136/jnnp-2012-303136

 Keywords: cerebellum, coordination, motor learning, attention, cognition, olfactory processing, Alzheimer's disease (AD), Parkinson's disease (PD), spinocerebellar (SCA), Friedreich's ataxia.

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation

Current Concepts and Controversies in Neurodegeneration with Brain Iron Accumulation. Michael J. Keogh, BMBS, MSc, MRCP, Patrick F. Chinnery, MBBS, PhD, FRCP, FMedSc. Seminars in Pediatric Neurology Volume 19, Issue 2, June 2012, Pages 51–56. DOI: http://dx.doi.org/10.1016/j.spen.2012.03.004

Keywords: Neurodegeneration, brain iron accumulation (NBIA), phenotypic heterogeneity, NBIA pathogenesis.

The Case for Induced Pluripotent Stem Cell-derived Cardiomyocytes in Pharmacological Screening

The Case for Induced Pluripotent Stem Cell-derived Cardiomyocytes in Pharmacological Screening.Jaffar M Khan, Alexander R. Lyon and Sian E. Harding; British Journal of Pharmacology. Accepted manuscript online: 27 JUL 2012 DOI: 10.1111/j.1476-5381.2012.02118.x

Keywords: cardiac, stem cell, embryonic, iPSC, safety, cardiotoxicity, high throughput, drug screening models, human cardiomyocytes, pharmacology.

The Spectrum of Left Ventricular Changes in Friedreich Ataxia—Relation to Age and GAA Repeats in the Frataxin Gene

The Spectrum of Left Ventricular Changes in Friedreich Ataxia—Relation to Age and GAA Repeats in the Frataxin Gene. G. Romanelli, M. Delatycki, L. Donelan, R. Hassam, L. Corben, R. Peverill. Heart, Lung and Circulation, Volume 21, Supplement 1, 2012, Pages S273 DOI: http://dx.doi.org/10.1016/j.hlc.2012.05.668

Keywords: Increased LV RWT, GAA1, LV size, wall thickness or mass, age.

Echocardiographic Parameters in the Assessment of Friedreich's Ataxia with Preserved Left Ventricular Systolic Function

Echocardiographic Parameters in the Assessment of Friedreich's Ataxia with Preserved Left Ventricular Systolic Function. L. Eng, D. Duncan, I. Cukovski, L. Jijnasu, K. Davies, P. Palka. Heart, Lung and Circulation Volume 21, Supplement 1, 2012, Pages S201–S202. http://dx.doi.org/10.1016/j.hlc.2012.05.499.

Keyword: Friedreich's ataxia (FRDA), cardiac dysfunction, ,FRDA cardiomyopathy, left ventricular hypertrophy, diastolic dysfunction, myocardial dysfunction, echocardiographic, cardiac dimensions, Doppler imaging (TDI).