Saturday, June 22, 2013

Osteopenia and osteoporosis in Friedreich's ataxia

Osteopenia and osteoporosis in Friedreich's ataxia. Nachbauer, W., Eigentler, A., Gasser, R., Poewe, W., Boesch, S.; Movement Disorders 2013;28 Suppl 1 :698

Keywords: osteoporosis, osteopenia, Friedreich ataxia (FRDA), demographic, clinical values, increased risk of fractures, osteodensitometry, wheelchair-bound patients.

Friday, June 21, 2013

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia

Friedreich ataxia: metal dysmetabolism in dorsal root ganglia. Arnulf H Koeppen, Erik C Kuntzsch, Sarah T Bjork, R Liane Ramirez, Joseph E Mazurkiewicz and Paul J Feustel. Acta Neuropathologica Communications 2013, 1:26 doi:10.1186/2051-5960-1-26
Published: 19 June 2013

OPEN ACCESS, FULL TEXT PDF

Thursday, June 20, 2013

Mitochondrial Diseases of the Brain

Mitochondrial Diseases of the Brain. Rajnish K. Chaturvedi, M. Flint Beal. Free Radical Biology and Medicine, Volume 63, October 2013, Pages 1-29. 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, Friedreich’s ataxia, Neurodegenerative diseases, Mitochondrial dysfunction, Creatine, Co-Q10, PGC-1α, Sirtuins, Free radicals.

Analysis of the visual system in Friedreich ataxia.

Analysis of the visual system in Friedreich ataxia. Seyer LA, Galetta K, Wilson J, Sakai R, Perlman S, Mathews K, Wilmot GR, Gomez CM, Ravina B, Zesiewicz T, Bushara KO, Subramony SH, Ashizawa T, Delatycki MB, Brocht A, Balcer LJ, Lynch DR. Journal of neurology : 2013 Jun 18 pg.

Keywords: optical coherence tomography (OCT), contrast letter acuity, GAA repeat length, highly correlated with neurological outcomes, markers of neurologic progression in FRDA.

Friday, June 14, 2013

The neuroprotective and neurorescue effects of carbamylated erythropoietin Fc fusion protein (CEPO-Fc) in a rat model of Parkinson’s disease

The neuroprotective and neurorescue effects of carbamylated erythropoietin Fc fusion protein (CEPO-Fc) in a rat model of Parkinson’s disease; Judith Thomas Tayra, Masahiro Kameda, Takao Yasuhara, Takashi Agari, Tomohito Kadota, Feifei Wang, Yoichiro Kikuchi, Hanbai Liang, Aiko Shinko, Takaaki Wakamori, Brigitta Vcelar,Brain Research, Volume 1502, 28 March 2013, Pages 55–70. http://dx.doi.org/10.1016/j.brainres.2013.01.042

Keywords: Carbamylated erythropoietin, Dopamine, Neuroprotection, Neurorescue, Parkinson’s disease

Brain-Computer Interfaces Make New Tasks As Simple As Waving A Hand

Brain-Computer Interfaces Make New Tasks As Simple As Waving A Hand. University of Washington. (2013, June 14). "Brain-Computer Interfaces Make New Tasks As Simple As Waving A Hand." Medical News Today

This technology could improve communication and daily life for a person who is paralyzed or has lost the ability to speak from a stroke or neurodegenerative disease.

Saturday, June 8, 2013

Friedreich’s and other hereditary ataxias in Greece: an 18-year perspective

Friedreich’s and other hereditary ataxias in Greece: an 18-year perspective Georgios Koutsis, Athina Kladi, Georgia Karadima, Henry Houlden, Nicholas W. Wood, Kyproula Christodoulou, Marios Panas. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Genetic delineation of early onset cerebellar ataxia phenotypes in India through next generation sequencing

Genetic delineation of early onset cerebellar ataxia phenotypes in India through next generation sequencing Mohammed Faruq, Ankita Narang, Renu Kumari, Achal Kumar Sriavstava, Debasis Dash, Mitali Mukerji. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Addressing Mitochondrial Function in a mouse model of Friedreich’s Ataxia (FRDA)

Addressing Mitochondrial Function in a mouse model of Friedreich’s Ataxia (FRDA) Rosella Abeti, Michael Parkinson, Chiranjeevi Sandi, Mark Pook, Andrey AY Abramov and Paola Giunti. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Autosomal recessive cerebellar ataxias : cinical and genetic study of 188 patients

Autosomal recessive cerebellar ataxias : cinical and genetic study of 188 patients Lamia Ali-Pacha, W Hamza S Nouioua, C Lagier-Tourenne, Traki Benhassine, S Assami, Michel Koenig, Meriem Tazir. International Conference on Spinocerebellar degenerations. Brain and Spine Institute (ICM), Pitié-Salpêtrière Hospital, Paris (France), June 11-13, 2013. (ABSTRACTS SELECTED FOR PLATFORM PRESENTATIONS)

Retrospectively and prospectively Study of 188 cases belonging to 117 families coming from different regions of Algeria, between 2001 à 2012, patients suspected of Autosomal recessive cerebellar ataxias. The molecular diagnosis could be established in 67% of Autosomal recessive cerebellar ataxias patients (126 patients belonging to 75 families): 52 patients (32 families) were affected with Friedreich ataxia, it was the most frequent entity, as found in the majority of studies, followed by AOA2 and AVED.