Cerebello-cerebral connectivity deficits in Friedreich ataxia

Cerebello-cerebral connectivity deficits in Friedreich ataxia. Andrew Zalesky, Hamed Akhlaghi, Louise A. Corben, John L. Bradshaw, Martin B. Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F. Egan. Brain Structure and Function, April 2013. DOI 10.1007/s00429-013-0547-1

Keywords: Friedreich ataxia, Diffusion-weighted imaging, White matter, Connectome, Connectivity, supplementary motor area, cingulate cortex, frontal cortices, putamen, other subcortical nuclei.

Mitochondrial Diseases of the Brain

Mitochondrial Diseases of the Brain. Rajnish K. Chaturvedi, M. Flint Beal; Free Radical Biology and Medicine, Available online 6 April 2013.
http://dx.doi.org/10.1016/j.freeradbiomed.2013.03.018

Keywords: Parkinson’s disease, Alzheimer’s disease, Huntington’s disease, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Friedreich’s ataxia, Neurodegenerative diseases, Mitochondrial dysfunction, Creatine, Co-Q10, PGC-1α, Sirtuins.

Moving Forward on Shifting Sands: Ethical Regulation of Gene Therapy Clinical Trials in the United Kingdom

Moving Forward on Shifting Sands: Ethical Regulation of Gene Therapy Clinical Trials in the United Kingdom. Emma Morris, Martin Gore, Andrew Baker and Adrian J Thrasher; Molecular Therapy (2013); 21 4, 715–716. doi:10.1038/mt.2013.43

Editorial. FULL TEXT

Gene Therapy Researchers' Assessments Of Risks And Perceptions Of Risk Acceptability In Clinical Trials

Gene Therapy Researchers' Assessments Of Risks And Perceptions Of Risk Acceptability In Clinical Trials. Claire T. Deakin, Ian E. Alexander, Cliff A. Hooker, Ian H. Kerridge; Molecular Therapy (2013); 21 4, 806–815. doi:10.1038/mt.2012.230

Decisions about clinical trials appear to be influenced not only by the clinical context and preclinical evidence. Identifying moral assumptions and qualitative assessments underpinning the design and conduct of research may facilitate future decision-making in clinical trials.

The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA.

The effect of nicotinamide on dysregulated genes associated with frataxin deficiency in FRDA. Chan PK, Khadayate S; Gene Expression Omnibus (GEO). Public on Apr 03, 2013

Citation: Chan PK, Torres R, Yandim C, Law PP et al. Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3. Hum Mol Genet 2013 Mar 26. PMID: 2347481

Genetic and phenotypic variability of optic neuropathies.

Genetic and phenotypic variability of optic neuropathies. Neuhann T, Rautenstrauss B.; Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19.

Keywords: Hereditary optic neuropathies, heterogeneous disorders, autosomal dominant, autosomal recessive, X-linked recessive, Leber's hereditary optic neuropathy, Kjer's disease, mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's ataxia, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses, brain iron accumulation.

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies . Aurélien Bayot, Sacha Reichman, Sophie Lebon, Zsolt Csaba, Laetitia Aubry, Ghislaine Sterkers, Isabelle Husson, Malgorzata Rak, Pierre Rustin; Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt144 First published online: April 2, 2013.

KEYWORDS: Friedreich's ataxia (FRDA), intronic expansion of GAA triplet repeats, FXN locus, mitochondrial frataxin, profound cytoskeleton anomalies, PIP5K1B gene, phosphatidylinositol 4-phosphate 5-kinase β type I (pip5k1β), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2), actin network.

The role of palliative care in patients with neurological diseases

The role of palliative care in patients with neurological diseases. Gian Domenico Borasio; Nature Reviews Neurology ,doi:10.1038/nrneurol.2013.49

Keywords:Palliative care, quality of life, life-threatening illness, neurological disorders, daily clinical practice.

Trinucleotide repeat expansions catalyzed by human cell-free extracts

Trinucleotide repeat expansions catalyzed by human cell-free extracts. Jennifer R Stevens, Elaine E Lahue, Guo-Min Li and Robert S Lahue. Cell Research (2013) 23:565–572. doi:10.1038/cr.2013.12; published online 22 January 2013

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A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients.

A phase IIa clinical trial to test the safety and efficacy of interferon gamma treatment in elevating frataxin levels in Friedreich’s ataxia (FRDA) patients. Dr Roberto Testi, Universita’ di Roma Tor Vergata, Italy.

New research project