Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment.

Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment. Marek Napiontek,
Krzysztof Pietrzak; European Journal of Orthopaedic Surgery & Traumatology, June 2014, DOI 10.1007/s00590-014-1498-9

Keywords: Foot, Paralytic deformity, Charcot–Marie–Tooth disease, Friedreich ataxia, Neuromuscular polyneuropathy

The results show that none of the surgical techniques used for correction of foot deformities in motor-sensory polyneuropathies seems to be preferable.

MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia

MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia . Ezzatizadeh V, Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA., PLoS ONE 9(6): e100523. doi:10.1371/journal.pone.0100523

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Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry

Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry. Jennifer Bridwell-Rabb, Nicholas G. Fox, Chi-Lin Tsai, Andrew M Winn, and David P. Barondeau. Biochemistry Just Accepted Manuscript. DOI: 10.1021/bi500532e Publication Date (Web): June 27, 2014

Lanzaderas y terapia génica contra la ataxia de Friedreich

Lanzaderas y terapia génica contra la ataxia de Friedreich .“excelenciencia.org”. 19/06/2014

"Si se cumplen las previsiones, apunta Teixidó, antes de las próximas navidades la tecnología resultante de esta unión debería verificarse en modelos animales e iniciar el camino de investigación preclínica que finalmente desemboque en un eventual ensayo clínico."

La unión de los dos centros de investigación y la capacidad de la plataforma permitieron desarrollar un sólido proyecto que atrajo la atención de la estadounidense The Friedreich's Ataxia Research Alliance (FARA), http://www.curefa.org/ de gran potencia organizativa y, sobre todo, económica.

Corneal Sensitivity and Tear Function in Neurodegenerative Diseases.

Corneal Sensitivity and Tear Function in Neurodegenerative Diseases. Ornek N, Dağ E, Ornek K; Current eye Research [2014:1-6]

FA patients did not show any abnormalities in either outcome measures, Corneal sensitivity measured using a Cochet-Bonnet esthesiometer and Tear function tests which included tear break-up time (TBUT) and Schirmer's. This may be attributed to, unlike other Neurodegenerative Diseases, lack of autonomic disturbances in FA patients

Powerhouse down: Complex II dissociation in the respiratory chain

Powerhouse down: Complex II dissociation in the respiratory chain. Hwang MS, Rohlena J, Dong LF, Neuzil J, Grimm S., Mitochondrion (2014), http://dx.doi.org/10.1016/j.mito.2014.06.001

KEYWORDS: apoptosis; complex II; mitochondria; iron sulfur clusters.

From mice to men: lessons from mutant ataxic mice

From mice to men: lessons from mutant ataxic mice. Jan Cendelin, Cerebellum & Ataxias 2014 1:4, doi:10.1186/2053-8871-1-4

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Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich’s Ataxia Patient iPSC derived Neural Stem Cells

Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich’s Ataxia Patient iPSC derived Neural Stem Cells. Bing Shan, Chunping Xu, Yaoyang Zhang, Tao Xu, Joel Gottesfeld, and John R. Yates; J. Proteome Res., Just Accepted Manuscript, DOI: 10.1021/pr500514r, Publication Date (Web): June 16, 2014

Brush strokes only can reveal it? Defining certain ultra-structural alterations in hairs of Friedreich’s Ataxia patients as a promising pre-diagnostic approach

Brush strokes only can reveal it? Defining certain ultra-structural alterations in hairs of Friedreich’s Ataxia patients as a promising pre-diagnostic approach. F. Pinar Turkmenoglu, U. Baran Kasirga; Abstracts of IFAA Congress, Annals of Anatomy - Anatomischer Anzeiger, Volume 196, Supplement, August 2014, Pages 1-286, ISSN 0940-9602, http://dx.doi.org/10.1016/j.aanat.2014.05.035.

In a scanning electron microscope examination ultra-structural hair alterations were differentiated by the time along with increasing neurologic symptoms, perhaps can be considered a pre-diagnostic tool for FRDA.

HSOP's Mouli Wins Most Outstanding At Auburn's Research Week

HSOP's Mouli Wins Most Outstanding At Auburn's Research Week. The Auburn pharmacist e-news, Auburn University. June 12, 2014

Currently she is developing novel drug strategies for increasing the transcriptional regulation of frataxin to mitigate the detrimental effects of Doxorubicin upon frataxin.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function. Santiago E. Faraj, Ernesto A. Roman, Martin Aran, Mariana Gallo and Javier Santos; FEBS Journal, Accepted manuscript online: 12 JUN 2014, DOI: 10.1111/febs.12869

In 5% of patients the typical GAA expansion is present in only one fxn allele and a missense mutation is found in the other allele. the disease course in these patients can be as severe as for patients with two expanded alleles.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function in L198R mutant, or its complete truncation in FXN 81-193 causes FRDA.

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1; S M Jeong, J Lee, L W S Finley, P J Schmidt, M D Fleming and M C Haigis; Oncogene advance online publication 9 June 2014; doi: 10.1038/onc.2014.124

The activity of SIRT3 is inhibited in frataxin-deficient heart, it may contribute to the cardiomyopathy in Friedreich’s ataxia. Friedreich’s ataxia cells exhibit an increased IRP1 activity and iron accumulation, thus, it will be interesting for future studies to examine the role of SIRT3 in systemic iron homeostasis and iron-related human diseases.

Autologous Stem Cell Transplant with Gene Therapy for Friedreich Ataxia

Autologous Stem Cell Transplant with Gene Therapy for Friedreich Ataxia; P.T. Naoki Tajiri, B.S. Meaghan Staples, Yuji Kaneko, Seung U. Kim, Theresa A. Zesiewic, Cesar V. Borlongan, Medical Hypotheses, Available online 9 June 2014, ISSN 0306-9877, http://dx.doi.org/10.1016/j.mehy.2014.05.022.

HDAC Inhibition Appears Safe in Early Trial on Friedreich's Ataxia

HDAC Inhibition Appears Safe in Early Trial on Friedreich's Ataxia, NEWS FROM THE AAN ANNUAL MEETING. Neurology Today:
5 June 2014 - Volume 14 - Issue 11 - p 46-47, doi: 10.1097/01.NT.0000451003.10471.a7

In a phase 1 trial, a histone deacetylase inhibitor appears to be safe and to increase expression of the frataxin gene in adult patients with Friedreich's ataxia.

Antioxidant targeting by deferiprone in diseases related to oxidative damage

Antioxidant targeting by deferiprone in diseases related to oxidative damage . Kontoghiorghe CN, Kolnagou A, Kontoghiorghes GJ.; Front Biosci (Landmark Ed). 2014 Jun 1;19:862-885. http://dx.doi.org/10.2741/4253

Keywords:antioxidant pharmaceuticals, free radical damage (FRD), Deferiprone (L1), iron overload, cardiomyopathy, acute kidney disease, Friedreich ataxia.

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study

Myelin paucity of the superior cerebellar peduncle in individuals with Friedreich ataxia: an MRI magnetization transfer imaging study. Louise A. Corben, Saman Rassaei Kashuk, Hamed Akhlaghi, Sharna Jamadar, Martin B. Delatycki, Joanne Fielding, Beth Johnson, Nellie Georgiou-Karistianis, Gary F. Egan, Journal of the Neurological Sciences, Available online 1 June 2014, ISSN 0022-510X, http://dx.doi.org/10.1016/j.jns.2014.05.057.

This is the first study to demonstrate reduced MTR in the SCP of individuals with FRDA when compared to control participants. These findings may reflect a process of disruption of the reciprocal relationship between oligodendrocytes and axons resulting in paucity of myelin, and provides significant new insight into the neurodegenerative pathology of FRDA

Photoinduced Transformation of Iron Chelator Deferiprone: Possible Implications in Drug Metabolism and Toxicity

Photoinduced Transformation of Iron Chelator Deferiprone: Possible Implications in Drug Metabolism and Toxicity. V.A. Timoshnikov, V.I. Klimentiev, N.E. Polyakov, G.J. Kontoghiorghes, Journal of Photochemistry and Photobiology A: Chemistry, Available online 2 June 2014, ISSN 1010-6030, http://dx.doi.org/10.1016/j.jphotochem.2014.05.012.

Thefindings suggest that high dose of sunlight might cause chemical modifications which may have chemical, biochemical, pharmacological and toxicological implications, especially possible undesirable phototoxic effects in patients undergoing treatment in countries with increased sunlight exposure.