Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia)

Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia) Mohammad Hossein Salehi, Behnam Kamalidehghan, Massoud Houshmand, Omid Aryani, Majid Sadeghizadeh, Mir Majid Mossalaeie. Molecular Biology Reports, September 2013, DOI 10.1007/s11033-013-2767-0

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Epigenetics and ncRNAs in Brain Function and Disease: Mechanisms and Prospects for Therapy

Epigenetics and ncRNAs in Brain Function and Disease: Mechanisms and Prospects for Therapy. Miguel A. Varela, Thomas C. Roberts, Matthew J. A. Wood;
Neurotherapeutics, September 2013

Keywords: non-coding RNAs (ncRNAs), epigenetic mechanisms, gene expression, microRNAs (miRNAs), MECP2, EZH2, cancer, neurological diseases.

Management of the Rigid Cavus Foot in Children and Adolescents

Management of the Rigid Cavus Foot in Children and Adolescents . Dennis S. Weiner, Kerwyn Jones, David Jonah, Martin S. Dicintio; Foot and Ankle Clinics, Available online 26 September 2013. http://dx.doi.org/10.1016/j.fcl.2013.08.007

Keywords: Rigidity; Cavus; Salvage; Midtarsal; Osteotomy

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism

Abnormal Base Excision Repair at Trinucleotide Repeats Associated with Diseases: A Tissue-Selective Mechanism. Goula, Agathi-Vasiliki; Merienne, Karine. Genes 2013, 4, 375-387.

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Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients

Mitochondrial DNA variations and evidence of haplogroups in Indian Friedreich's ataxia (FRDA) patients. I. Mudila, F. Mohammed, A. Srivastava; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e708-e709. http://dx.doi.org/10.1016/j.jns.2013.07.2446

Variations at positions 16 519, 4883 and 5178 suggest that these variations may act as modifier for the disease.

Voxel-based morphometry in Friedreich's ataxia: A prospective study

Voxel-based morphometry in Friedreich's ataxia: A prospective study. C. Bonilha da Silva, C.L. Yasuda, A. D'Abreu, I. Lopes-Cendes, F. Cendes, M.C. França Jr.; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e659-e660. http://dx.doi.org/10.1016/j.jns.2013.07.2285

VBM analyses showed that FRDA patients have progressive GM and WM loss in two years

Electrophysiological study of spinocerebellar ataxia and Friedreich ataxia's patients

Electrophysiological study of spinocerebellar ataxia and Friedreich ataxia's patients. B. Myftiu, E. Kocasoy Orhan, B. Baslo, Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e477. http://dx.doi.org/10.1016/j.jns.2013.07.1697

Interferon gamma as a potential therapy for Friedreich ataxia

Interferon gamma as a potential therapy for Friedreich ataxia. B. Tomassini, G. Arcuri, S. Fortuni, C. Sandi, V. Ezzatizadeh, C. Casali, I. Condo, F. Malisan, S. Al-Mahdawi, M. Pook, R. Testi; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e474. http://dx.doi.org/10.1016/j.jns.2013.07.1686

Treatment with interferon gamma, a drug currently approved for pediatric indications, shows potential as a therapy for FRDA. A phase II clinical trial, aimed at assessing tolerability of interferon gamma and the ability of interferon gamma to elevate frataxin levels in FRDA patients, is currently underway

Autosomal recessive cerebellar ataxia: A clinical and genetic study

Autosomal recessive cerebellar ataxia: A clinical and genetic study. L. Ali-Pacha, W. Hamza, S. Nouioua, C. Lagier-Tourenne, S. Assami, T. Benhassine, M. Koenig, M. Tazir. Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Page e468. http://dx.doi.org/10.1016/j.jns.2013.07.1665

Friedreich's ataxia was the most frequent entity, as found in the majority of studies, followed by AOA2 and AVED.

Substantia nigra hypoechogenicity is not related to Friedreich ataxia

Substantia nigra hypoechogenicity is not related to Friedreich ataxia. M. Sierra, J. Infante, J. Berciano; Journal of the Neurological Sciences, Volume 333, Supplement 1, 15 October 2013, Pages e146-e147. http://dx.doi.org/10.1016/j.jns.2013.07.488

Our data do not support the notion that SN hypoechogenicity is related to FRDA itself, although it might be associated with RLS.