April 2012 - After several attempts, Oxgene, a corporation from Australia, has succeeded in creating transgenic Knock-in ARSACS mice, (mice where a gene has been modified). Up to now, the research team had been successful in creating some Knock-out mice ( mice where the ARSACS gene has been removed), however this is a first in producing Knock-in mice. This will provide the research team with an additional model. The research at Oxgene has been funded in total by the Foundation of the Ataxia Charlevoix- Saguenay.

The next ARSACS research team meeting will be held in Montreal on April 26th 2012.

February 29, 2012- The project of the Foundation of Ataxia Charlevoix- Saguenay has been chosen as part of the rare diseases competition launched in 2010 by the Canadian Institutes of Health Research ( CIHR). The announcement was made today in Ottawa by the Parliamentary Secretary to the Minister of Health, Dr. Colin Carrie.

CIHR will contribute to the financing of the research project for a 5 year period in partnership with the Foundation.

Congratulations to the Research Team for an excellent work!

Dr Carrie, Parliamentary Secretary to the Minister of Health, Chantal Gobeil representing the Foundation, Dr Lasko, Scientific Director of the CIHR Institutes of Genetics.

Photo ot the ARSACS team meeting in February 2012

Rebeca Gaudet, Marie-Josée Dicaire, Bernard Brais, Peter McPherson, Eric Shoubridge,

Martine Girard, Anne McKinney, Roxanne Larivière.

January 29, 2012- The Foundation of Ataxia Charlevoix- Saguenay announces that it will cofiance research in partnership with Genome Canada as part of the "Large Scale Appiled Research Competition - Genomics and Pesonalized Health " . The Foundation will consider providing co-funding to projects in the area of genomics and personalized health that will lead to the development of better diagnostic tools and therapeutic strategies for ARSACS.

Defective cell "batery"plays central role in ARSACS. This important discovery made by the research team funded by the Ataxia of Charlevoix- Saguenay Foundation brings a significant understanding not only on ARSACS but also on other neurodegenerative diseases such as parkinson and alzheimer. See Press Release issued by the Montreal Neurological Institute and Hospital on January 17, 2012.

Furthermore, this advancement has been published in January 2012 in the prestigious american scientific magazine Proceedings of the National Academy of Sciences of the USA (PNAS).

For a more detailed description of the scientific results of the research see Dr Peter McPherson's article.

The important discovery has received significant media coverage around the world: Nouvelles TVA, Neuro, CIHO FM 96, Gazette,Discovery Magazine, article in Russia.

There is an oppoprtunity to work on the ARSACS research project under the supervision of Dr. Paul Chapple in England. Click on the following link for more details:

The resuts of the ARSACS research project are now in the public domain. They have been presented at the American Society for Cell Biology annual meeting held on Dec 6 in Denver, Colorado and have been posted on the following scientific websites:

http://www.eurekalert.org/pub_releases/2011-12/asfc-de112211.php

http://www.biocompare.com/News/NewsStory/405998/NewsStory.html

The SACS is very large 9 exons gene that codes for one of the largest 4579 amino acids 521 kDa human protein that is relatively ubiquitously expressed but at much higher level in the central nervous system.

Sacsin is a multimodular protein, with the following 7 presently defined domains from N- to C-terminal: a ubiquitin-like domain that binds to the proteosome; three large sacsin repeat regions that may have an Hsp90-like chaperone function; an XPCB domain that binds to the Ube3A ubiquitin protein ligase; a DnaJ domain that binds Hsc70; and a higher eukaryotes and prokaryotes nucleotide-binding (HEPN) domain that mediates sacsin dimerization.

Sacsin was shown to colocalize with mitochondrial in neurons in culture and in the brain of rodents.

Knock down (KD) and Knock out (KO) of sacsin lead to abnormal mitochondrial fission and ensuing abnormal mitochondrial network, axonal and even greater dendritic neuronal morphological changes, and neuronal death in culture and in a transgenic KO mice model.

The KO mice develop age-dependant cerebellar neuronal Purkinje cell death and a progressive spastic and ataxic phenotype.

As part of the Society for Neuroscience annual meeting to be held in Washington from November 12 to November 15, 2011, there will be a working meeting with foreign researchers interested in obtaining information on the ARSACS different research projects and on the possibilities to integrate research on ARSACS to their respective expertise fields. For additional information on the congress, see www.sfn.org

35 researchers attended the International Symposium on Automosal Recessive Spastic Ataxia of Charlevoix-Saguenay ((ARSACS) on October 17, 2011 in Montreal. The participants from all around the world presented different research approaches on animal models. It is very encouraging to see that all the researches are pointing in the same directions. The symposium provided a great opportunity to share knowledge and ideas and indirectly contributed to the advancement of research on ARSACS. Many thanks to all the contributors to the succcess of the event.

1st row: Paul Chapple, Anne McKinney, Jean-Pierre Bouchard, Roxanne Larivière, Heidi McBride, and Stefan Pulst.

2nd row: Bernard Brais, Jason Young, José Barral, Eric Shoubridge,Peter McPherson, et Kalle Gehring

The International Symposium on Automosal Recessive Spastic Ataxia of Charlevoix-Saguenay ((ARSACS) will take place on October 17, 2011 at the Montreal Neurological Institute and Hospital (3801 University Street). It will bring together international and Canadian leaders in the field of hereditary spastic ataxias with a special interest in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS). The symposium will honour the exceptional contribution of the Canadian neurologist of international reputation, Jean-Pierre Bouchard, who described the condition in 1978. The one day symposium immediately follows the annual meeting of the American Society for Human Genetics and the International Congress of Human Genetics held in Montreal on October 11-15, 2011. These meetings will bring to Montreal a significant number of clinicians and researchers interested in spastic ataxia research. Click on the folllowing link to consult the program of the ARSACS symposium http://www.neuroevents.mcgill.ca.

As part of the partnership with McGill University, an important meeting was held on September 19 in Montreal with representatives of the Zurich Neuroscience Centre. This first meeting was to promote the ARSACS project to researchers and to identify potential collaborators to the project.

Furthermore, the meeting provided a great opportunity to discuss the latest technological tools currently available or under development by the researchers of the Neuroscience Centre in order to improve the quality of llife of the individuals with ARSACS. Mr. Jean Groleau and Mrs Sonai Gobeil, founders of the Ataxia Charlevoix-Saguenay Foundation, particpated at the meeting.

We will keep you informed of any development on this subject.

The American Society for Cell Biology (ASCB) has selected the ARSACS abstract to be in its press book for its 51st Annual Meeting. The goal is to identify those research projects with the strongest news value or to illuminate a novel aspect of cell biology for the general public.

The annual meeting to be held in Denver, Colorado in December 2011, will be attended by approximately 10,000 cell biologists from around the world, with approximately 5,000 scientific presentations.

The ARSACS abstract, a mouse model of the human spastic ataxia ARSACS revealing mitochondrial dysfunction and neuro degeneration, was chosen from more than 880 submissions as one of this year Novel & Newsworthy Top Picks. The ARSACS research team work will be featured in this years press book, Cell Biology 2011, in press interviews at the conference, and on the ASCB web site.

This press book, seen by science journalists from all over the world, will provide a great opportunity to get exposure for the research paper, the cause, and the Ataxia Charlevoix-Saguenay Foundation.

As part of the rare diseases competition launched by the Canadian Institutes of Health Research (CIHR), the research team working on the ARSACS project has completed the second step of the competition. A detailled funding application was filed in August. According to the rules of the competition, the deadline to file a demand was Monday August 15, 2011.

This funding opportunity has a two step application process; the first step was completed earlier. A decision is anticiapted by 2012-01-31.

Starting in September 2011, the Foundation of Ataxia Charlevoix-Saguenay will finance 2 projects to develop instruments for measuring cerebellar and pyramidal inroads in ARSACS. One project will focus on spasticity and on the development of more precise measures to be used in clinical trials. The second project will validate a more precise instrument of dysmetria or walking. Two physiotherapists, master students in clinical sciences at the University of Sherbrooke, will work on the projects at the Clinique Neuromusculaire in Jonquiere. The projects will require the participation of individuals with ARSACS.

Dr. Barral and Dr. Anderson from the University of Texas Medical Branch ( Galveston Texas) have published in June 2011 a scientific article on the biochemistry of the sacsin and on ARSACS. See Article.

In fact, in Novemeber 2010, Dr. Anderson met with the research team members from Montreal to collaborate in the research. See item below "Researchers from Texas interested in sacsin".