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Dr Julie Greenfield

By Dr Julie Greenfield, Ataxia UK

A series of lay presentations were given by international ataxia researchers for the euro-ATAXIA conference.  These are summarised below.

Update on recessive ataxias - Professor Michel Koenig (Strasbourg, France).
 
Prof Michel Koenig from the University of Strasbourg began with an update on the non-Friedreich’s recessive ataxias and improving diagnosis. Screening to find the genes responsible for an individual’s ataxia is a difficult problem as there is no specific pathway linked to recessive ataxia. Rather, sensory nerve cells and nerve cells in the cerebellum are vulnerable in a number of different ways. He described next generation sequencing as a technological advance that will help in providing patients with specific diagnoses and highlighted how many new types of recessive ataxia are emerging, often very rare forms.
Some newer conditions were described in some more detail. ARCA1, for example, is a pure ataxia only identified in Canada so far. He thought that the reason for not having identified other families is probably due to the technical difficult and high cost in finding mutations in this gene due to it being such a large size. ARCA2 is an ataxia associated with CoQ10 deficiency that could potentially respond to CoQ10 supplementation; and finally ARCA3 is a new entity which is associated with late onset, slow progression and a pure ataxia.

Can we manipulate our own stem cells and could this be a future therapy for the ataxias? Professor Silvia Marino (Barts and the London School of Medicine and Dentistry, UK).

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THE INTERNATIONAL LITERARY PROJECT AGAINST FRIEDREICH’S ATAXIA
Tel.: (+34) 637046067 - (+34) 91 632 14 09
E-mail: coordination@babelfamily.org

The realization of the BabelFAmily INTERNATIONAL LITERARY PROJECT!

In December 2010, Maria Blasco Gamarra, writer and someone who has Friedreich’s Ataxia, contacted the BABELFAMILY association. She wanted to share an ambitious idea with us: to write a novel with other authors from all over the world who, like her, suffer from Friedreich’s Ataxia, and to donate the profits to the biomedical research into curing the illness.
The authors could write in their maternal language, since the work would be translated by a team of volunteer translators from BabelFAmily into several languages. On her initiative, other writers got on board: Fátima D’Oliveira (Portugal), Marguerite Black (South Africa), Maria Pino Brumberg, Eva and Diego Plaza Gonzalez, Ramon Herreruela Roldán, Inmaculada Priego Priego, Ana Pilar Tolosana, Kristina Zarrantz Elizalde and Maria Luz Gonzalez Casas (Spain), Jamie Leigh Hansen and Susan C. Allen (U.S.), Nicola Batty and Sarah Allen (UK), Claudia Parada (Mexico) and Rebecca Stant (Australia). Each author wrote a chapter of the book following a simple storyline which acted as a guiding thread bringing unity to a story without constraining the creative freedom or writing style of each author. A journey in time and space which uncovers an enigma, a terrible secret buried for more than a century.
During this journey spanning two years, the writers have shared hopes and joys and many experiences which have enriched personal and literary experiences, but they have also mourned the death of fellow writer Nicola Batty, who unfortunately could not overcome the last crisis of Friedreich's ataxia. "We hope that where you are now is as beautiful as your prose."