Amyotrophic lateral sclerosis and dementia

General outline:    Familial or non-familial form

A degeneration of the MOTONEURONS of the spinal cord, extending to the MOTOR frontal cortex AND DIFFUSING IN FRONTOTEMPORAL REGIONS IN  CASES WITH DEMENTIA.
Affects motor neurones OF THE SPINAL CORD, then EXTENDING later also motor neurones in brain

Synonyms    Amyotrophic lateral sclerosis (ALS), Lu Gehrig's disease

Symptoms    Key features: motor symptoms (weakness of extremities, people tend to drop objects and to stumble, fasciculation of muscles (also affecting the tongue) - lead to secondary motor problems (problems with breathing and swallowing, frequent choking problems) precede  psychiatric symptoms which are similar to fronto-temporal dementia.
Often presence of depression (patients are aware of their physical handicap).

Course    IT SEEMS THAT THERE IS A GROUP Rapidly progressing ( 2 - 4 years) AND ANOTHER ONE WITH AN EVOLUTION IN 5 TO 10 YEARS from diagnosis.

Age of onset: variable starting At 30 YEARS, mainly in the elderly (50/55 YEARS)

Caregiver problems:   Similar to CJD due to rapid progression and number of physical problems arising.
Depression of patient.

Epidemiology:    Equally rare in males and females.DEMENTIA IS OBSERVED IN 5% OF ALL ALS CASES  AND 15% OF FAMILIAL CASES.


Aetiology:    May be sporadic and familial. SOME familial cases are autosomal dominant and are associated with mutations on the SOD superoxidase dismutase gene TYPE 1 on Chromosome ??.
The PATHOGENIC EFFECT OF THE MUTATION  is not clear. AGGREGATION AND ABNORMAL PROCESSING OF SOD1, RATHER THAN LOSS OF FUNCTION, IS MOST PROBABLE.
The enzyme SOD1 aggregates in SOME familial cases. Etiology of the sporadic form is unknown.

Diagnostic procedures    EMG reveals deficits fibrillation.
In cases with familial aggregation, a genetic test may be performed looking for mutations in the SOD gene.
Treatment and rehabilitation    Treatment is symptomatic, but no cure.
In the final stage, assisted breathing, tube feeding - patients in late stages often in emergency wards
Ongoing research / clinical trials    Several treatments have been tried, including antioxidants, but no significant effects have been found

Available services    Motor Neuron Association in the UK