[Research in amyotrophic lateral sclerosis: what is new in 2009?]. / La recherche sur la SLA en 2009 : compte rendu du groupe bibliographique de la coordination des centres SLA.

This paper, written by French amyotrophic lateral sclerosis (ALS) center experts, presents an update of recent advances in fundamental, epidemiological and clinical research in ALS based on a review of the literature between September 2008 and November 2009. Among other pathophysiological mechanisms, the role of stress of the endoplasmic reticulum and the importance of energetic metabolic disturbances have been underscored. In the field of genetics, research has been advanced through the identification of mutations of the gene FUsed in Sarcoma/Translated in LipoSarcoma (FUS/TLS) in individuals with familial and sporadic ALS. This gene is involved in the regulation of transcription, splicing and RNA transport, and has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration. A report showed that mice expressing a mutant form of human TDP-43 develop a progressive and fatal neurodegenerative disease reminiscent of both ALS and frontotemporal lobar degeneration with ubiquitin aggregates (FTLD-U), providing a new animal model that may help to better understand the pathophysiology and test new therapeutics. Beside genetic studies, several epidemiologic studies have investigated the role of environmental factors. A recent study suggests that smoking is a risk factor for developing ALS and it is hypothesized that this could occur through lipid peroxidation via formaldehyde exposure. From a neuroprotective perspective, trials with IGF-1, sodium valproate, coenzyme Q or glatiramer acetate have failed to demonstrate any beneficial effect. A study published in 2008 argued that lithium may have a neuroprotective effect in ALS mice and also in patients. However, two preclinical studies failed to replicate the neuroprotective effect of lithium in ALS mice. Therapeutic trials have been performed or are currently ongoing in Europe and North America. Their results have not yet been published.

[What physical therapy techniques can be used to improve airway freedom in amyotrophic lateral sclerosis?]. / Quelles sont les modalités de thérapie physique symptomatique incluant les techniques de désencombrement bronchique?

In individuals with ALS rehabilitation is mainly designed to prevent fatigue and contracture, to improve independence and activities for as long as possible, to optimize ability to live with the handicap, and finally to maximize quality of life. The functional impairment must be defined and physical therapy techniques have to be adapted to each patient and reevaluated frequently during the course of the disease. Various types of massage and exercise, monitored by a physical therapist are effective. Strengthening or endurance exercises are controversial as exercise may injure muscle fibres and motor neurons. Isometric exercise, short of fatigue, of unaffected muscles is recommended. Range of motion exercise is critically important for preventing contraction. Assistive and adaptative equipments are essential for maintaining the patient's activities of daily living and home equipment preserves independence. Several orthoses for hand, arm, foot or cervical weakness are available. A wheelchair is an important adaptative device when walking becomes too fatiguing or impossible. Choice for special options and features may require attention. Pulmonary complications are prevented with adapted techniques for bronchic obstruction. Based on the degree of weakness of limb and axial muscles six stages of functional impairment can be defined ranging from fully ambulatory in stage I to bedridden and totally dependent in stage VI. This staging provides a framework for physical therapy evaluation and guidance for appropriate rehabilitation in ALS patients.