A new study published in the journal Brain: a Journal of Neurology suggests a novel hypothesis as to how motor neuron disease (MND) develops as a result of abnormal cholesterol metabolism within nerve cells. This could help diagnose and treat the condition more accurately, say the researchers.
The researchers found some evidence that motor neuron disease is linked to an abnormal build-up of cholesterol and other lipids within cellular compartments. However, this could be due to any of a host of abnormal genes.
Motor neuron disease
Motor neuron disease is an umbrella term, with many different types of illness grouped in this category. Amyotrophic lateral sclerosis (ALS) is a fatal disease and the most common MND, affecting about 2 per 100,000 individuals worldwide.
About 1 in 2500 are affected by one of these conditions, in the UK. Their complex symptoms and signs often lead to delayed diagnosis. For instance, the patient might notice it’s becoming harder to climb stairs, or there’s ankle weakness; the speech might become unclear, swallowing becomes a problem, things are dropped more often or the individual finds it difficult to do intricate tasks using the small muscles of the hand. Weight loss due to muscle wasting, and emotional dysregulation, are other noticeable signs at this stage.
Most affected people find this coming on in their 60s and 70s, but no age is exempt after adulthood.
In all cases, the patient eventually becomes unable of any voluntary muscular activity, including moving, talking, swallowing and even breathing, leading to death.
There is no cure at present, nor can the progress of the illness be arrested. Over 2000 deaths occur each year due to this condition, but the cause is still unknown. Some have speculated that it could be due to genetic mutations, heavy metal poisoning or pollutants in agricultural occupations.
The onset, timing and symptoms show gross variation between patients, even when they are genetically related, such as being in the same family. Thus, the new study could help to improve diagnosis and predict the clinical course of the disease, including the severity of the final stages.