Kathryn M. Yorkston, Ph.D., BC-NCD, Department of Rehabilitation Medicine, University of Washington, Seattle, WA.
David Beukelman, Ph.D., Department of Special Education and Communication Disorders, University of Nebraska, Lincoln, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska, Omaha, NE.
Laura Ball, Ph.D., Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska, Omaha, NE.

Summary
This article describes intervention for dysarthria associated with amyotrophic lateral sclerosis (ALS). Five critical periods are presented including a stage with normal speech, detectable speech disturbance, behavioural intervention, use of augmentative communication, and loss of useful speech. Intervention strategies at each of these stages are outlined with the goal of maintaining functional communication regardless of the severity of dysarthria.

ALS is a rapidly progressive degenerative disease of unknown etiology involving the motor neurons of both the brain and spinal cord.¹ The symptoms characteristic of ALS are generally classified by site of involvement (that is, upper motor neuron versus lower motor neuron) and by whether spinal nerves (those innervating the arms and legs) or bulbar nerves (those innervating the muscles of speech and swallowing) are involved.

A team of researchers studying highly inbred families in Kuwait, Tunisia and Saudi Arabia has identified a new gene for an inherited form of amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. Although only 5-10% of cases of ALS are hereditary, the findings may explain the mechanisms that underlie the disease.

ALS2 is an autosomal recessive form of juvenile ALS and has been mapped to chromosome 2q33. The researchers reported two independent deletion mutations linked to ALS2 in the coding region of a new gene, ALS2. The deletion mutations lead to frameshifts that generate premature stop codons. The gene is expressed in various tissues and cells, including neurons throughout the brain and spinal cord, and encodes a protein that is suggested to be a putative GTPase regulator. Deletion mutations that are predicted to cause a loss of protein function provide strong evidence that ALS2 is the causative gene underlying this form of the disease.

It is hoped that if the gene controls a protein that is necessary for cell survival, this could help in the development of drugs to protect these neurons in ALS, and possibly in other forms of neurodegenerative diseases.

Source

1. Hadano S, Hand CK, Osuga H, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genetics 2001;29:166-173.

Nariman Malik, BSc
Contributing Author,
Geriatrics & Aging.

Lou Gehrig: A Brief History
Lou Gehrig was born June 19, 1903 in New York City. He played for the New York Yankees from 1923 to 1939 and was one of the most famous first basemen in the history of major league baseball.¹ The man known as the 'iron horse of baseball' and 'Columbia Lou' was originally recruited for only two games in 1923.² However, this durable athlete went on to play in 2,130 consecutive games.³ In fact, he never missed a game until he voluntarily benched himself on May 2, 1939.

Gehrig had an impressive career. He had a lifetime batting average of .340, hit 493 home runs and was a four-time winner of the Most Valuable Player award.³ He was also inducted into the Baseball Hall of Fame. The 1938 season had proven to be a bad one for Gehrig as he was not playing up to his usual standard. During spring training for the 1939 season, he began having trouble getting power behind the ball and had difficulty with his movements.² Unhappy with his performance, Gehrig voluntarily benched himself.

Six weeks later, Gehrig was referred to the renowned Mayo Clinic where he was diagnosed with amyotrophic lateral sclerosis (ALS). Gehrig was never told his true diagnosis and was unaware that the outcome was fatal. Only his wife and a few of her confidantes knew the true nature of Gehrig's illness.

In 1869, french neurologist Jean-Martin Charcot first described a rapidly progressive, fatal neuromuscular disease. This disease, amyotrophic lateral sclerosis, or Lou-Gehrig's disease, is a neurodegenerative disorder that affects the patient's motor neurons; typically the patient is paralyzed or deceased within 2 to 5 years of the initial diagnosis. Currently, approximately 3000 Canadians suffer from this tragic disease.

Andrew Eisen MD, FRCPC
Professor and Head, Division of
Neurology, University of British Columbia,
Head of the Neuromuscular Diseases Unit,
Vancouver General Hospital

Amyotrophic lateral sclerosis (ALS) is a prototypic neurodegeneration of the aging nervous system. It has a worldwide incidence of about 2 per 100,000 members of the population and a prevalence of 4&endash;7 per 100,000. As is true of both Parkinson's and Alzheimer's disease, the incidence of ALS is increasing proportional to the increasing longevity of the population. Information regarding the specific incidence of ALS in the elderly (aged 75 years and older) is sparse. The apparent decrease in incidence of this disease in patients older than 70 years reflects mortality from competing diseases in later life.

The etiopathogenesis of ALS is complex and multi-factorial.