By: Jerry Belsh, M.D.
Two parallel meetings were held, one on biomedical science, and the other on diagnosis and care of ALS patients. On the scientific side, there were major sessions on neuroimaging (MRI, magnetic spectroscopy, etc.), measurement of disease progression, clinical and molecular genetics, and pathogenic disease mechanisms (including excitotoxicity and cytoskeletal damage). Clinical sessions highlighted the following topics: assessing quality of life and palliative care; ventilatory support; ALS diagnosis and prognosis; new ALS practice guidelines; and nutritional management. Joint sessions also were conducted on novel drug development, recently completed clinical trials, and future strategies of therapy.
One very exciting area of research, presented by investigators from Montreal and western Ontario, involved laboratory mice, genetic alteration, and increased amounts of certain natural body proteins which appear to protect motor neurons from cell death. In short, the investigators created genetically-engineered mice which expressed a mutant gene for SOD1 (superoxide dismutase). This gene has been linked to certain families with familial ALS, and these “transgenic mice” are known to develop an ALS-like disease, with progressive muscle weakening and wasting. In these same mice, the investigators altered a second gene which resulted in an increase in a structural protein which is essential for nerve cell function – heavy neurofilament. Surprisingly, the transgenic ALS mice with the increase in neurofilaments had a longer lifespan (by 65%!) than their ALS-mice siblings. While this overexpression of neurofilaments appears to protect motor neurons from SOD1-mediated ALS, another neuronal filament protein -–peripherin – appears to have the opposite effect by selectively killing off motor neurons.
I was honored to make a scientific presentation at the Vancouver symposium. It was entitled “Painless Weakness and Wasting of the Hand Presenting as Early ALS: A Case of True Neurogenic Thoracic Outlet Syndrome”, and my co-author was Dr. Judith Amorosa of RWJ Medical School’s Department of Radiology. The importance of this presentation was that it described another uncommon neurological condition – true neurogenic TOS which, in certain instances, can mimic ALS. Obviously, before a physician reports a diagnosis of ALS to a patient, the physician must have ruled out a host of conditions that might produce findings resembling those of ALS. We hope that as more of these challenging cases are described at large meetings, more neurologists will become knowledgeable regarding the diagnosis of ALS.